Linked Data
dbSNP Id:
rs755248651
ExAC:
7:99358552 C / T
gnomAD v2:
7-99358552-C-T
gnomAD v3:
7-99760929-C-T
gnomAD v4:
7-99760929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760929C>T , CM000669.2:g.99760929C>T | GRCh38 |
| NC_000007.13:g.99358552C>T , CM000669.1:g.99358552C>T | GRCh37 |
| NC_000007.12:g.99196488C>T | NCBI36 |
| NG_008421.1:g.28257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1399G>A | ENSP00000337915.3:p.Gly467Arg | |
| ENST00000651162.1:n.741G>A | ||
| ENST00000651514.1:c.1306G>A MANE Select | ENSP00000498939.1:p.Gly436Arg | |
| ENST00000651783.1:c.847G>A | ENSP00000498924.1:p.Gly283Arg | |
| ENST00000652018.1:c.1159G>A | ENSP00000498733.1:p.Gly387Arg | |
| ENST00000336411.6:c.1306G>A | ENSP00000337915.2:p.Gly436Arg | |
| ENST00000354593.6:c.856G>A | ENSP00000346607.2:p.Gly286Arg | |
| NM_001202855.2:c.1303G>A | NP_001189784.1:p.Gly435Arg | |
| NM_017460.5:c.1306G>A | NP_059488.2:p.Gly436Arg | |
| XM_011515841.1:c.1399G>A | XP_011514143.1:p.Gly467Arg | |
| XM_011515842.1:c.1396G>A | XP_011514144.1:p.Gly466Arg | |
| NM_017460.6:c.1306G>A MANE Select | NP_059488.2:p.Gly436Arg | |
| NM_001202855.3:c.1303G>A | NP_001189784.1:p.Gly435Arg |