MyVariant.info:
GRCh37
chr12:g.50847329T>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50453546T>A , CM000674.2:g.50453546T>A | GRCh38 |
| NC_000012.11:g.50847329T>A , CM000674.1:g.50847329T>A | GRCh37 |
| NC_000012.10:g.49133596T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398473.7:c.891T>A MANE Select | ENSP00000381490.2:p.Thr297= | |
| ENST00000293618.12:c.891T>A | ENSP00000293618.8:p.Thr297= | |
| ENST00000347328.9:c.805-768T>A | ENSP00000340901.5:n.805-768T>A | |
| ENST00000398473.6:c.891T>A | ENSP00000381490.2:p.Thr297= | |
| ENST00000429001.7:c.909T>A | ENSP00000415464.3:p.Thr303= | |
| ENST00000518444.5:c.888T>A | ENSP00000429077.1:p.Thr296= | |
| ENST00000518561.5:c.681T>A | ENSP00000430851.1:p.Thr227= | |
| ENST00000520064.2:c.252T>A | ENSP00000429631.2:p.Thr84= | |
| ENST00000521120.1:n.212T>A | ||
| ENST00000522085.5:c.891T>A | ENSP00000429781.1:p.Thr297= | |
| ENST00000614335.4:c.*26-768T>A | ENSP00000482977.1:n.*26-768T>A | |
| ENST00000616828.4:c.891T>A | ENSP00000477854.1:p.Thr297= | |
| NM_001170803.1:c.805-768T>A | NP_001164274.1:n.805-768T>A | |
| NM_001170804.1:c.891T>A | NP_001164275.1:p.Thr297= | |
| NM_001170808.1:c.891T>A | NP_001164279.1:p.Thr297= | |
| NM_052879.4:c.891T>A | NP_443111.4:p.Thr297= | |
| NM_199188.2:c.888T>A | NP_954658.2:p.Thr296= | |
| NM_199190.2:c.805-768T>A | NP_954660.1:n.805-768T>A | |
| NR_033200.1:n.1142T>A | ||
| XM_005268613.1:c.681T>A | XP_005268670.1:p.Thr227= | |
| XM_011537828.1:c.933T>A | XP_011536130.1:p.Thr311= | |
| XM_011537829.1:c.915T>A | XP_011536131.1:p.Thr305= | |
| XM_011537830.1:c.909T>A | XP_011536132.1:p.Thr303= | |
| XM_011537831.1:c.906T>A | XP_011536133.1:p.Thr302= | |
| XM_011537832.1:c.933T>A | XP_011536134.1:p.Thr311= | |
| XM_011537833.1:c.847-768T>A | XP_011536135.1:n.847-768T>A | |
| XM_011537834.1:c.933T>A | XP_011536136.1:p.Thr311= | |
| XM_011537835.1:c.829-768T>A | XP_011536137.1:n.829-768T>A | |
| XM_011537836.1:c.915T>A | XP_011536138.1:p.Thr305= | |
| XM_011537837.1:c.681T>A | XP_011536139.1:p.Thr227= | |
| XM_011537838.1:c.681T>A | XP_011536140.1:p.Thr227= | |
| XM_011537839.1:c.681T>A | XP_011536141.1:p.Thr227= | |
| XM_011537840.1:c.681T>A | XP_011536142.1:p.Thr227= | |
| XM_011537841.1:c.681T>A | XP_011536143.1:p.Thr227= | |
| XM_011537842.1:c.681T>A | XP_011536144.1:p.Thr227= | |
| XM_011537843.1:c.829-768T>A | XP_011536145.1:n.829-768T>A | |
| XM_011537844.1:c.933T>A | XP_011536146.1:p.Thr311= | |
| XM_011537845.1:c.933T>A | XP_011536147.1:p.Thr311= | |
| NM_001330415.1:c.909T>A | NP_001317344.1:p.Thr303= | |
| NM_001352304.1:c.681T>A | NP_001339233.1:p.Thr227= | |
| NM_001352305.1:c.906T>A | NP_001339234.1:p.Thr302= | |
| NM_001352306.1:c.861T>A | NP_001339235.1:p.Thr287= | |
| NM_001352307.1:c.837T>A | NP_001339236.1:p.Thr279= | |
| NM_001352308.1:c.823-768T>A | NP_001339237.1:n.823-768T>A | |
| NM_001352309.1:c.681T>A | NP_001339238.1:p.Thr227= | |
| NM_001352310.1:c.681T>A | NP_001339239.1:p.Thr227= | |
| NM_001352311.1:c.681T>A | NP_001339240.1:p.Thr227= | |
| NM_001352312.1:c.681T>A | NP_001339241.1:p.Thr227= | |
| NM_001352313.1:c.681T>A | NP_001339242.1:p.Thr227= | |
| NM_001352314.1:c.681T>A | NP_001339243.1:p.Thr227= | |
| NM_001352315.1:c.802-768T>A | NP_001339244.1:n.802-768T>A | |
| NM_001352316.1:c.595-768T>A | NP_001339245.1:n.595-768T>A | |
| NM_001352317.1:c.595-768T>A | NP_001339246.1:n.595-768T>A | |
| NM_001352318.1:c.681T>A | NP_001339247.1:p.Thr227= | |
| NM_001352319.1:c.592-768T>A | NP_001339248.1:n.592-768T>A | |
| NM_001352320.1:c.595-768T>A | NP_001339249.1:n.595-768T>A | |
| NM_001352321.1:c.891T>A | NP_001339250.1:p.Thr297= | |
| NM_001352322.1:c.805-768T>A | NP_001339251.1:n.805-768T>A | |
| NM_001352323.1:c.891T>A | NP_001339252.1:p.Thr297= | |
| NM_001352324.1:c.681T>A | NP_001339253.1:p.Thr227= | |
| NM_001352325.1:c.891T>A | NP_001339254.1:p.Thr297= | |
| NM_001352326.1:c.805-768T>A | NP_001339255.1:n.805-768T>A | |
| XM_011537829.3:c.915T>A | XP_011536131.1:p.Thr305= | |
| XM_011537835.3:c.829-768T>A | XP_011536137.1:n.829-768T>A | |
| XM_011537836.3:c.915T>A | XP_011536138.1:p.Thr305= | |
| XM_011537838.3:c.681T>A | XP_011536140.1:p.Thr227= | |
| XM_011537843.3:c.829-768T>A | XP_011536145.1:n.829-768T>A | |
| XM_017018751.2:c.681T>A | XP_016874240.1:p.Thr227= | |
| XM_017018753.2:c.681T>A | XP_016874242.1:p.Thr227= | |
| XM_017018754.2:c.681T>A | XP_016874243.1:p.Thr227= | |
| XM_017018757.1:c.595-768T>A | XP_016874246.1:n.595-768T>A | |
| XM_024448823.1:c.681T>A | XP_024304591.1:p.Thr227= | |
| XM_024448824.1:c.681T>A | XP_024304592.1:p.Thr227= | |
| XM_024448825.1:c.915T>A | XP_024304593.1:p.Thr305= | |
| XM_024448826.1:c.829-768T>A | XP_024304594.1:n.829-768T>A | |
| XM_024448827.1:c.915T>A | XP_024304595.1:p.Thr305= | |
| NM_052879.5:c.891T>A MANE Select | NP_443111.4:p.Thr297= | |
| NM_001170803.2:c.805-768T>A | NP_001164274.1:n.805-768T>A | |
| NM_001330415.2:c.909T>A | NP_001317344.1:p.Thr303= | |
| NM_001352305.2:c.906T>A | NP_001339234.1:p.Thr302= | |
| NM_001352306.2:c.861T>A | NP_001339235.1:p.Thr287= | |
| NM_001352307.2:c.837T>A | NP_001339236.1:p.Thr279= | |
| NM_001352308.2:c.823-768T>A | NP_001339237.1:n.823-768T>A | |
| NM_001352309.2:c.681T>A | NP_001339238.1:p.Thr227= | |
| NM_001352310.2:c.681T>A | NP_001339239.1:p.Thr227= | |
| NM_001352311.2:c.681T>A | NP_001339240.1:p.Thr227= | |
| NM_001352312.2:c.681T>A | NP_001339241.1:p.Thr227= | |
| NM_001352313.2:c.681T>A | NP_001339242.1:p.Thr227= | |
| NM_001352315.2:c.802-768T>A | NP_001339244.1:n.802-768T>A | |
| NM_001352316.2:c.595-768T>A | NP_001339245.1:n.595-768T>A | |
| NM_001352317.2:c.595-768T>A | NP_001339246.1:n.595-768T>A | |
| NM_001352318.2:c.681T>A | NP_001339247.1:p.Thr227= | |
| NM_001352319.2:c.592-768T>A | NP_001339248.1:n.592-768T>A | |
| NM_001352320.2:c.595-768T>A | NP_001339249.1:n.595-768T>A | |
| NM_001352321.2:c.891T>A | NP_001339250.1:p.Thr297= | |
| NM_001352322.2:c.805-768T>A | NP_001339251.1:n.805-768T>A | |
| NM_001352323.2:c.891T>A | NP_001339252.1:p.Thr297= | |
| NM_001352325.2:c.891T>A | NP_001339254.1:p.Thr297= | |
| NM_001352326.2:c.805-768T>A | NP_001339255.1:n.805-768T>A | |
| NM_199188.3:c.888T>A | NP_954658.2:p.Thr296= | |
| NM_199190.3:c.805-768T>A | NP_954660.1:n.805-768T>A | |
| NM_001170804.2:c.891T>A | NP_001164275.1:p.Thr297= | |
| NM_001170808.2:c.891T>A | NP_001164279.1:p.Thr297= | |
| NM_001352304.2:c.681T>A | NP_001339233.1:p.Thr227= | |
| NM_001352314.2:c.681T>A | NP_001339243.1:p.Thr227= | |
| NM_001352324.2:c.681T>A | NP_001339253.1:p.Thr227= |