Linked Data
ClinVar Variation Id:
2149597
ClinVar RCV Id:
RCV003083206
dbSNP Id:
rs898043581
gnomAD v2:
13-110822947-G-C
gnomAD v3:
13-110170600-G-C
gnomAD v4:
13-110170600-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110170600G>C , CM000675.2:g.110170600G>C | GRCh38 |
| NC_000013.10:g.110822947G>C , CM000675.1:g.110822947G>C | GRCh37 |
| NC_000013.9:g.109620948G>C | NCBI36 |
| NG_011544.2:g.141550C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3689C>G MANE Select | ENSP00000364979.4:p.Ala1230Gly | |
| ENST00000375820.8:c.3689C>G | ENSP00000364979.4:p.Ala1230Gly | |
| NM_001845.5:c.3689C>G | NP_001836.3:p.Ala1230Gly | |
| XM_011521048.1:c.3497C>G | XP_011519350.1:p.Ala1166Gly | |
| XM_011521048.2:c.3497C>G | XP_011519350.1:p.Ala1166Gly | |
| NM_001845.6:c.3689C>G MANE Select | NP_001836.3:p.Ala1230Gly |