Linked Data
ClinVar Variation Id:
335783
dbSNP Id:
rs141831710
ExAC:
2:31595201 C / T
gnomAD v2:
2-31595201-C-T
gnomAD v3:
2-31372335-C-T
gnomAD v4:
2-31372335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31372335C>T , CM000664.2:g.31372335C>T | GRCh38 |
| NC_000002.11:g.31595201C>T , CM000664.1:g.31595201C>T | GRCh37 |
| NC_000002.10:g.31448705C>T | NCBI36 |
| NG_008871.1:g.47411G>A | |
| NG_008871.2:g.47411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.1749G>A MANE Select | ENSP00000368727.3:p.Ala583= | |
| ENST00000379416.3:c.1749G>A | ENSP00000368727.3:p.Ala583= | |
| NM_000379.3:c.1749G>A | NP_000370.2:p.Ala583= | |
| XM_011533095.1:c.1746G>A | XP_011531397.1:p.Ala582= | |
| XM_011533096.1:c.1749G>A | XP_011531398.1:p.Ala583= | |
| XM_011533095.2:c.1746G>A | XP_011531397.1:p.Ala582= | |
| XM_011533096.2:c.1749G>A | XP_011531398.1:p.Ala583= | |
| NM_000379.4:c.1749G>A MANE Select | NP_000370.2:p.Ala583= |