Linked Data
dbSNP Id:
rs1279892705
gnomAD v2:
14-77745154-A-G
gnomAD v3:
14-77278811-A-G
gnomAD v4:
14-77278811-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278811A>G , CM000676.2:g.77278811A>G | GRCh38 |
| NC_000014.8:g.77745154A>G , CM000676.1:g.77745154A>G | GRCh37 |
| NC_000014.7:g.76814907A>G | NCBI36 |
| NG_008897.1:g.47072T>C , LRG_844:g.47072T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.875T>C | ||
| ENST00000556394.2:c.1491T>C | ENSP00000451967.2:p.His497= | |
| ENST00000682128.1:c.251T>C | ENSP00000506976.1:n.251T>C | |
| ENST00000682247.1:c.1939T>C | ENSP00000507213.1:p.Leu647= | |
| ENST00000682395.1:n.2414T>C | ||
| ENST00000682459.1:n.1653T>C | ||
| ENST00000682467.1:c.1892-303T>C | ENSP00000508062.1:n.1892-303T>C | |
| ENST00000682615.1:n.304T>C | ||
| ENST00000682795.1:c.2097T>C | ENSP00000507574.1:p.His699= | |
| ENST00000682895.1:n.1666T>C | ||
| ENST00000682955.1:n.1524T>C | ||
| ENST00000683095.1:c.356T>C | ENSP00000508040.1:n.356T>C | |
| ENST00000683188.1:c.2211T>C | ||
| ENST00000683380.1:n.1614T>C | ||
| ENST00000683828.1:c.1659T>C | ||
| ENST00000683907.1:c.215T>C | ENSP00000507754.1:p.Ile72Thr | |
| ENST00000684172.1:c.326T>C | ENSP00000508391.1:n.326T>C | |
| ENST00000684259.1:n.3717T>C | ||
| ENST00000684538.1:n.1329T>C | ||
| ENST00000684549.1:n.1501T>C | ||
| ENST00000261534.9:c.1950T>C MANE Select | ENSP00000261534.4:p.His650= | |
| ENST00000261534.8:c.1950T>C | ENSP00000261534.4:p.His650= | |
| ENST00000452340.7:n.2926T>C | ||
| ENST00000554767.5:n.2736T>C | ||
| ENST00000555710.1:c.311T>C | ENSP00000451730.1:n.311T>C | |
| ENST00000556171.1:c.542T>C | ||
| ENST00000556394.1:c.88-303T>C | ||
| ENST00000556446.1:n.251T>C | ||
| ENST00000602717.5:c.165T>C | ENSP00000487704.1:p.His55= | |
| NM_013382.5:c.1950T>C , LRG_844t1:c.1950T>C | NP_037514.2:p.His650= | |
| XM_011536675.1:c.2139T>C | XP_011534977.1:p.His713= | |
| XM_011536676.1:c.1806T>C | XP_011534978.1:p.His602= | |
| XM_011536677.1:c.1680T>C | XP_011534979.1:p.His560= | |
| XM_011536679.1:c.1233T>C | XP_011534981.1:p.His411= | |
| XR_943416.1:n.2203T>C | ||
| XM_011536675.2:c.2139T>C | XP_011534977.1:p.His713= | |
| XM_011536676.2:c.1806T>C | XP_011534978.1:p.His602= | |
| XM_011536677.3:c.1680T>C | XP_011534979.1:p.His560= | |
| XR_001750279.1:n.2236T>C | ||
| XR_001750282.1:n.2889T>C | ||
| XR_943416.3:n.2201T>C | ||
| NM_013382.6:c.1950T>C | NP_037514.2:p.His650= | |
| NM_013382.7:c.1950T>C MANE Select | NP_037514.2:p.His650= |