Linked Data
ClinVar Variation Id:
211195
ClinVar RCV Id:
RCV000194649
RCV000286740
RCV000341695
RCV000445398
RCV000382385
RCV000725784
RCV004530121
dbSNP Id:
rs146588336
ExAC:
19:7132173 G / C
gnomAD v2:
19-7132173-G-C
gnomAD v3:
19-7132162-G-C
gnomAD v4:
19-7132162-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7132162G>C , CM000681.2:g.7132162G>C | GRCh38 |
| NC_000019.9:g.7132173G>C , CM000681.1:g.7132173G>C | GRCh37 |
| NC_000019.8:g.7083173G>C | NCBI36 |
| NG_008852.2:g.166839C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.2838C>G MANE Select | ENSP00000303830.4:p.Asp946Glu | |
| ENST00000302850.9:c.2838C>G | ENSP00000303830.4:p.Asp946Glu | |
| ENST00000341500.9:c.2802C>G | ENSP00000342838.4:p.Asp934Glu | |
| NM_000208.2:c.2838C>G | NP_000199.2:p.Asp946Glu | |
| NM_000208.3:c.2838C>G | NP_000199.2:p.Asp946Glu | |
| NM_001079817.1:c.2802C>G | NP_001073285.1:p.Asp934Glu | |
| NM_001079817.2:c.2802C>G | NP_001073285.1:p.Asp934Glu | |
| XM_011527988.1:c.2916C>G | XP_011526290.1:p.Asp972Glu | |
| XM_011527989.1:c.2880C>G | XP_011526291.1:p.Asp960Glu | |
| XM_011527988.2:c.2838C>G | XP_011526290.2:p.Asp946Glu | |
| XM_011527989.3:c.2802C>G | XP_011526291.2:p.Asp934Glu | |
| NM_000208.4:c.2838C>G MANE Select | NP_000199.2:p.Asp946Glu | |
| NM_001079817.3:c.2802C>G | NP_001073285.1:p.Asp934Glu |