Linked Data
dbSNP Id:
rs1275390556
gnomAD v2:
2-10188543-C-T
gnomAD v3:
2-10048416-C-T
gnomAD v4:
2-10048416-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10048416C>T , CM000664.2:g.10048416C>T | GRCh38 |
| NC_000002.11:g.10188543C>T , CM000664.1:g.10188543C>T | GRCh37 |
| NC_000002.10:g.10105994C>T | NCBI36 |
| NG_017199.1:g.9862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.1079C>T MANE Select | ENSP00000307023.1:p.Ala360Val | |
| ENST00000305883.5:c.1079C>T | ENSP00000307023.1:p.Ala360Val | |
| ENST00000535335.1:c.1028C>T | ENSP00000442722.1:p.Ala343Val | |
| ENST00000540845.5:c.1028C>T | ENSP00000444690.1:p.Ala343Val | |
| NM_001177716.1:c.1028C>T | NP_001171187.1:p.Ala343Val | |
| NM_001177718.1:c.1028C>T | NP_001171189.1:p.Ala343Val | |
| NM_003597.4:c.1079C>T | NP_003588.1:p.Ala360Val | |
| XM_005246179.3:c.1028C>T | XP_005246236.1:p.Ala343Val | |
| NM_003597.5:c.1079C>T MANE Select | NP_003588.1:p.Ala360Val | |
| NM_001177716.2:c.1028C>T | NP_001171187.1:p.Ala343Val | |
| NM_001177718.2:c.1028C>T | NP_001171189.1:p.Ala343Val |