Linked Data
ClinVar Variation Id:
644677
dbSNP Id:
rs539279281
ExAC:
1:245027169 G / C
gnomAD v2:
1-245027169-G-C
gnomAD v3:
1-244863867-G-C
gnomAD v4:
1-244863867-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863867G>C , CM000663.2:g.244863867G>C | GRCh38 |
| NC_000001.10:g.245027169G>C , CM000663.1:g.245027169G>C | GRCh37 |
| NC_000001.9:g.243093792G>C | NCBI36 |
| NG_042184.1:g.5659C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.119C>G | ||
| ENST00000283179.14:c.441C>G | ENSP00000283179.10:p.Asp147Glu | |
| ENST00000444376.7:c.441C>G | ENSP00000393151.2:p.Asp147Glu | |
| ENST00000476241.2:n.626C>G | ||
| ENST00000638475.1:c.225C>G | ENSP00000491305.1:p.Asp75Glu | |
| ENST00000638952.1:n.672C>G | ||
| ENST00000640218.2:c.441C>G MANE Select | ENSP00000491215.1:p.Asp147Glu | |
| ENST00000640306.1:c.441C>G | ENSP00000491685.1:p.Asp147Glu | |
| ENST00000640440.1:c.141C>G | ENSP00000491263.1:p.Asp47Glu | |
| ENST00000649899.1:n.665C>G | ||
| ENST00000283179.13:c.441C>G | ENSP00000283179.9:p.Asp147Glu | |
| ENST00000444376.6:c.441C>G | ENSP00000393151.2:p.Asp147Glu | |
| ENST00000476241.1:n.625C>G | ||
| NM_004501.3:c.441C>G | NP_004492.2:p.Asp147Glu | |
| NM_031844.2:c.441C>G | NP_114032.2:p.Asp147Glu | |
| NM_031844.3:c.441C>G MANE Select | NP_114032.2:p.Asp147Glu |