Linked Data
dbSNP Id:
rs749794177
ExAC:
7:99364836 C / A
gnomAD v2:
7-99364836-C-A
gnomAD v3:
7-99767213-C-A
gnomAD v4:
7-99767213-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99767213C>A , CM000669.2:g.99767213C>A | GRCh38 |
| NC_000007.13:g.99364836C>A , CM000669.1:g.99364836C>A | GRCh37 |
| NC_000007.12:g.99202772C>A | NCBI36 |
| NG_008421.1:g.21973G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.716G>T | ENSP00000337915.3:p.Cys239Phe | |
| ENST00000651162.1:n.151G>T | ||
| ENST00000651514.1:c.716G>T MANE Select | ENSP00000498939.1:p.Cys239Phe | |
| ENST00000651783.1:c.257G>T | ENSP00000498924.1:p.Cys86Phe | |
| ENST00000652018.1:c.569G>T | ENSP00000498733.1:p.Cys190Phe | |
| ENST00000336411.6:c.716G>T | ENSP00000337915.2:p.Cys239Phe | |
| ENST00000354593.6:c.266G>T | ENSP00000346607.2:p.Cys89Phe | |
| NM_001202855.2:c.713G>T | NP_001189784.1:p.Cys238Phe | |
| NM_017460.5:c.716G>T | NP_059488.2:p.Cys239Phe | |
| XM_011515841.1:c.716G>T | XP_011514143.1:p.Cys239Phe | |
| XM_011515842.1:c.713G>T | XP_011514144.1:p.Cys238Phe | |
| NM_017460.6:c.716G>T MANE Select | NP_059488.2:p.Cys239Phe | |
| NM_001202855.3:c.713G>T | NP_001189784.1:p.Cys238Phe |