Linked Data
dbSNP Id:
rs199422198
gnomAD v3:
1-197090236-A-G
gnomAD v4:
1-197090236-A-G
COSMIC:
COSM4576727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090236A>G , CM000663.2:g.197090236A>G | GRCh38 |
| NC_000001.10:g.197059366A>G , CM000663.1:g.197059366A>G | GRCh37 |
| NC_000001.9:g.195325989A>G | NCBI36 |
| NG_015867.1:g.61459T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.3076T>C | ||
| ENST00000367409.9:c.9789T>C MANE Select | ENSP00000356379.4:p.Tyr3263= | |
| ENST00000680265.1:c.10011T>C | ENSP00000505384.1:p.Tyr3337= | |
| ENST00000680710.1:c.9765T>C | ENSP00000506676.1:p.Tyr3255= | |
| ENST00000294732.11:c.5034T>C | ENSP00000294732.7:p.Tyr1678= | |
| ENST00000367408.5:c.2784T>C | ENSP00000356378.1:p.Tyr928= | |
| ENST00000367409.8:c.9789T>C | ENSP00000356379.4:p.Tyr3263= | |
| ENST00000612785.1:c.3747T>C | ENSP00000479244.1:p.Tyr1249= | |
| NM_001206846.1:c.5034T>C | NP_001193775.1:p.Tyr1678= | |
| NM_018136.4:c.9789T>C | NP_060606.3:p.Tyr3263= | |
| NM_018136.5:c.9789T>C MANE Select | NP_060606.3:p.Tyr3263= | |
| NM_001206846.2:c.5034T>C | NP_001193775.1:p.Tyr1678= |