Linked Data
ClinVar Variation Id:
310301
dbSNP Id:
rs371224677
ExAC:
12:66765693 C / T
gnomAD v2:
12-66765693-C-T
gnomAD v3:
12-66371913-C-T
gnomAD v4:
12-66371913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66371913C>T , CM000674.2:g.66371913C>T | GRCh38 |
| NC_000012.11:g.66765693C>T , CM000674.1:g.66765693C>T | GRCh37 |
| NC_000012.10:g.65051960C>T | NCBI36 |
| NG_021400.1:g.312233G>A | |
| NG_021400.2:g.702353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696989.1:c.2817G>A | ENSP00000513025.1:p.Ser939= | |
| ENST00000359742.9:c.2793G>A MANE Select | ENSP00000352780.4:p.Ser931= | |
| ENST00000359742.8:c.2793G>A | ENSP00000352780.4:p.Ser931= | |
| ENST00000398016.7:c.2637G>A | ENSP00000381098.3:p.Ser879= | |
| ENST00000535323.1:n.429G>A | ||
| ENST00000536215.5:c.2268G>A | ENSP00000446011.1:p.Ser756= | |
| ENST00000538164.5:c.2192G>A | ||
| ENST00000538211.5:c.2592G>A | ENSP00000446047.1:p.Ser864= | |
| ENST00000540433.5:c.2469G>A | ENSP00000446024.1:p.Ser823= | |
| ENST00000540854.5:c.338-22667G>A | ENSP00000443006.1:n.338-22667G>A | |
| ENST00000541299.1:n.509G>A | ||
| NM_001178074.1:c.2592G>A | NP_001171545.1:p.Ser864= | |
| NM_021150.3:c.2637G>A | NP_066973.2:p.Ser879= | |
| XM_005268754.3:c.2796G>A | XP_005268811.1:p.Ser932= | |
| XM_005268757.3:c.2715G>A | XP_005268814.1:p.Ser905= | |
| XM_011538089.1:c.3018G>A | XP_011536391.1:p.Ser1006= | |
| XM_011538090.1:c.2973G>A | XP_011536392.1:p.Ser991= | |
| XM_011538091.1:c.2862G>A | XP_011536393.1:p.Ser954= | |
| XM_011538092.1:c.2817G>A | XP_011536394.1:p.Ser939= | |
| XM_011538093.1:c.2793G>A | XP_011536395.1:p.Ser931= | |
| XM_011538094.1:c.2625G>A | XP_011536396.1:p.Ser875= | |
| NM_001366722.1:c.2793G>A MANE Select | NP_001353651.1:p.Ser931= | |
| NM_001366723.1:c.2712G>A | NP_001353652.1:p.Ser904= | |
| NM_001366724.1:c.2715G>A | NP_001353653.1:p.Ser905= | |
| XM_005268754.4:c.2796G>A | XP_005268811.1:p.Ser932= | |
| XM_005268757.4:c.2715G>A | XP_005268814.1:p.Ser905= | |
| XM_017019098.1:c.2973G>A | XP_016874587.1:p.Ser991= | |
| XM_017019099.1:c.2871G>A | XP_016874588.1:p.Ser957= | |
| XM_017019100.1:c.2817G>A | XP_016874589.1:p.Ser939= | |
| NM_001178074.2:c.2592G>A | NP_001171545.1:p.Ser864= | |
| NM_021150.4:c.2637G>A | NP_066973.2:p.Ser879= | |
| NM_001379345.1:c.2871G>A | NP_001366274.1:p.Ser957= | |
| NM_001379346.1:c.2748G>A | NP_001366275.1:p.Ser916= | |
| NM_001379347.1:c.2670G>A | NP_001366276.1:p.Ser890= | |
| NM_001379348.1:c.2667G>A | NP_001366277.1:p.Ser889= | |
| NM_001379349.1:c.2640G>A | NP_001366278.1:p.Ser880= | |
| NM_001379351.1:c.2592G>A | NP_001366280.1:p.Ser864= |