Linked Data
dbSNP Id:
rs199642880
ExAC:
9:104187144 G / A
gnomAD v2:
9-104187144-G-A
gnomAD v3:
9-101424862-G-A
gnomAD v4:
9-101424862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424862G>A , CM000671.2:g.101424862G>A | GRCh38 |
| NC_000009.11:g.104187144G>A , CM000671.1:g.104187144G>A | GRCh37 |
| NC_000009.10:g.103226965G>A | NCBI36 |
| NG_012387.1:g.15919C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.980C>T MANE Select | ENSP00000497767.1:p.Ala327Val | |
| ENST00000648064.1:c.980C>T | ENSP00000497990.1:p.Ala327Val | |
| ENST00000648758.1:c.980C>T | ENSP00000497731.1:p.Ala327Val | |
| ENST00000649902.1:c.980C>T | ENSP00000497216.1:p.Ala327Val | |
| ENST00000374855.8:c.980C>T | ENSP00000363988.4:p.Ala327Val | |
| ENST00000616752.1:c.943C>T | ENSP00000481363.1:p.Leu315Phe | |
| NM_000035.3:c.980C>T | NP_000026.2:p.Ala327Val | |
| NM_000035.4:c.980C>T MANE Select | NP_000026.2:p.Ala327Val |