Linked Data
dbSNP Id:
rs1274902257
gnomAD v2:
7-99358573-G-A
gnomAD v4:
7-99760950-G-A
COSMIC:
COSM4421533
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760950G>A , CM000669.2:g.99760950G>A | GRCh38 |
| NC_000007.13:g.99358573G>A , CM000669.1:g.99358573G>A | GRCh37 |
| NC_000007.12:g.99196509G>A | NCBI36 |
| NG_008421.1:g.28236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1378C>T | ENSP00000337915.3:p.Pro460Ser | |
| ENST00000651162.1:n.720C>T | ||
| ENST00000651514.1:c.1285C>T MANE Select | ENSP00000498939.1:p.Pro429Ser | |
| ENST00000651783.1:c.826C>T | ENSP00000498924.1:p.Pro276Ser | |
| ENST00000652018.1:c.1138C>T | ENSP00000498733.1:p.Pro380Ser | |
| ENST00000336411.6:c.1285C>T | ENSP00000337915.2:p.Pro429Ser | |
| ENST00000354593.6:c.835C>T | ENSP00000346607.2:p.Pro279Ser | |
| NM_001202855.2:c.1282C>T | NP_001189784.1:p.Pro428Ser | |
| NM_017460.5:c.1285C>T | NP_059488.2:p.Pro429Ser | |
| XM_011515841.1:c.1378C>T | XP_011514143.1:p.Pro460Ser | |
| XM_011515842.1:c.1375C>T | XP_011514144.1:p.Pro459Ser | |
| NM_017460.6:c.1285C>T MANE Select | NP_059488.2:p.Pro429Ser | |
| NM_001202855.3:c.1282C>T | NP_001189784.1:p.Pro428Ser |