Linked Data
ClinVar Variation Id:
136958
ClinVar RCV Id:
RCV000124517
RCV000394301
RCV001137057
RCV002277239
RCV002312865
RCV003456368
RCV002228283
dbSNP Id:
rs142544320
ExAC:
2:189898904 A / G
gnomAD v2:
2-189898904-A-G
gnomAD v3:
2-189034178-A-G
gnomAD v4:
2-189034178-A-G
COSMIC:
COSM3962091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034178A>G , CM000664.2:g.189034178A>G | GRCh38 |
| NC_000002.11:g.189898904A>G , CM000664.1:g.189898904A>G | GRCh37 |
| NC_000002.10:g.189607149A>G | NCBI36 |
| NG_011799.1:g.150702T>C | |
| NG_011799.2:g.150702T>C | |
| NG_011799.3:g.196124T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4392T>C MANE Select | ENSP00000364000.3:p.Tyr1464= | |
| ENST00000374866.7:c.4392T>C | ENSP00000364000.3:p.Tyr1464= | |
| ENST00000618828.1:c.3231T>C | ENSP00000482184.1:p.Tyr1077= | |
| NM_000393.3:c.4392T>C | NP_000384.2:p.Tyr1464= | |
| XM_011510573.1:c.4254T>C | XP_011508875.1:p.Tyr1418= | |
| NM_000393.4:c.4392T>C | NP_000384.2:p.Tyr1464= | |
| XM_011510573.3:c.4254T>C | XP_011508875.1:p.Tyr1418= | |
| NM_000393.5:c.4392T>C MANE Select | NP_000384.2:p.Tyr1464= |