Linked Data
dbSNP Id:
rs1255063815
gnomAD v2:
7-99358585-C-T
gnomAD v4:
7-99760962-C-T
COSMIC:
COSM5584960
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760962C>T , CM000669.2:g.99760962C>T | GRCh38 |
| NC_000007.13:g.99358585C>T , CM000669.1:g.99358585C>T | GRCh37 |
| NC_000007.12:g.99196521C>T | NCBI36 |
| NG_008421.1:g.28224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1366G>A | ENSP00000337915.3:p.Asp456Asn | |
| ENST00000651162.1:n.708G>A | ||
| ENST00000651514.1:c.1273G>A MANE Select | ENSP00000498939.1:p.Asp425Asn | |
| ENST00000651783.1:c.814G>A | ENSP00000498924.1:p.Asp272Asn | |
| ENST00000652018.1:c.1126G>A | ENSP00000498733.1:p.Asp376Asn | |
| ENST00000336411.6:c.1273G>A | ENSP00000337915.2:p.Asp425Asn | |
| ENST00000354593.6:c.823G>A | ENSP00000346607.2:p.Asp275Asn | |
| NM_001202855.2:c.1270G>A | NP_001189784.1:p.Asp424Asn | |
| NM_017460.5:c.1273G>A | NP_059488.2:p.Asp425Asn | |
| XM_011515841.1:c.1366G>A | XP_011514143.1:p.Asp456Asn | |
| XM_011515842.1:c.1363G>A | XP_011514144.1:p.Asp455Asn | |
| NM_017460.6:c.1273G>A MANE Select | NP_059488.2:p.Asp425Asn | |
| NM_001202855.3:c.1270G>A | NP_001189784.1:p.Asp424Asn |