Linked Data
ClinVar Variation Id:
477816
dbSNP Id:
rs151096846
ExAC:
2:21259975 G / T
gnomAD v2:
2-21259975-G-T
gnomAD v3:
2-21037103-G-T
gnomAD v4:
2-21037103-G-T
COSMIC:
COSM1326460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21037103G>T , CM000664.2:g.21037103G>T | GRCh38 |
| NC_000002.11:g.21259975G>T , CM000664.1:g.21259975G>T | GRCh37 |
| NC_000002.10:g.21113480G>T | NCBI36 |
| NG_011793.1:g.11971C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.536C>A | ENSP00000501110.2:p.Ala179Glu | |
| ENST00000673882.2:c.536C>A | ENSP00000501253.2:p.Ala179Glu | |
| ENST00000673739.1:c.404C>A | ENSP00000501110.1:p.Ala135Glu | |
| ENST00000673882.1:c.404C>A | ENSP00000501253.1:p.Ala135Glu | |
| ENST00000233242.5:c.690C>A MANE Select | ENSP00000233242.1:p.Gly230= | |
| ENST00000399256.4:c.690C>A | ENSP00000382200.4:p.Gly230= | |
| ENST00000616098.4:c.690C>A | ENSP00000477990.1:p.Gly230= | |
| NM_000384.2:c.690C>A | NP_000375.2:p.Gly230= | |
| XM_011532809.1:c.690C>A | XP_011531111.1:p.Gly230= | |
| NM_000384.3:c.690C>A MANE Select | NP_000375.3:p.Gly230= |