Linked Data
ClinVar Variation Id:
402166
dbSNP Id:
rs61743088
ExAC:
6:117715395 C / G
gnomAD v2:
6-117715395-C-G
gnomAD v3:
6-117394232-C-G
gnomAD v4:
6-117394232-C-G
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117394232C>G , CM000668.2:g.117394232C>G | GRCh38 |
| NC_000006.11:g.117715395C>G , CM000668.1:g.117715395C>G | GRCh37 |
| NC_000006.10:g.117822088C>G | NCBI36 |
| NG_033929.1:g.36624G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368507.8:c.1121G>C MANE Select | ENSP00000357493.3:p.Gly374Ala | |
| ENST00000368507.7:c.1121G>C | ENSP00000357493.3:p.Gly374Ala | |
| ENST00000368508.7:c.1094G>C | ENSP00000357494.3:p.Gly365Ala | |
| ENST00000467125.1:c.548-72838G>C | ENSP00000487717.1:n.548-72838G>C | |
| NM_002944.2:c.1094G>C | NP_002935.2:p.Gly365Ala | |
| XM_006715548.2:c.1121G>C | XP_006715611.1:p.Gly374Ala | |
| XM_011536049.1:c.1121G>C | XP_011534351.1:p.Gly374Ala | |
| XM_011536050.1:c.1121G>C | XP_011534352.1:p.Gly374Ala | |
| XM_011536051.1:c.1094G>C | XP_011534353.1:p.Gly365Ala | |
| XM_011536052.1:c.1121G>C | XP_011534354.1:p.Gly374Ala | |
| XM_011536053.1:c.1121G>C | XP_011534355.1:p.Gly374Ala | |
| XM_011536054.1:c.1121G>C | XP_011534356.1:p.Gly374Ala | |
| XM_011536055.1:c.1121G>C | XP_011534357.1:p.Gly374Ala | |
| XM_011536056.1:c.1121G>C | XP_011534358.1:p.Gly374Ala | |
| XM_011536057.1:c.1121G>C | XP_011534359.1:p.Gly374Ala | |
| XM_011536058.1:c.1121G>C | XP_011534360.1:p.Gly374Ala | |
| XM_006715548.4:c.1121G>C | XP_006715611.1:p.Gly374Ala | |
| XM_011536049.2:c.1121G>C | XP_011534351.1:p.Gly374Ala | |
| XM_011536050.2:c.1121G>C | XP_011534352.1:p.Gly374Ala | |
| XM_011536051.2:c.1094G>C | XP_011534353.1:p.Gly365Ala | |
| XM_011536052.2:c.1121G>C | XP_011534354.1:p.Gly374Ala | |
| XM_011536053.2:c.1121G>C | XP_011534355.1:p.Gly374Ala | |
| XM_011536054.2:c.1121G>C | XP_011534356.1:p.Gly374Ala | |
| XM_011536055.2:c.1121G>C | XP_011534357.1:p.Gly374Ala | |
| XM_011536056.2:c.1121G>C | XP_011534358.1:p.Gly374Ala | |
| XM_011536057.3:c.1121G>C | XP_011534359.1:p.Gly374Ala | |
| XM_011536058.2:c.1121G>C | XP_011534360.1:p.Gly374Ala | |
| XM_017011172.1:c.1094G>C | XP_016866661.1:p.Gly365Ala | |
| XM_017011173.1:c.1094G>C | XP_016866662.1:p.Gly365Ala | |
| NM_001378891.1:c.1121G>C | NP_001365820.1:p.Gly374Ala | |
| NM_001378902.1:c.1121G>C MANE Select | NP_001365831.1:p.Gly374Ala | |
| NM_002944.3:c.1094G>C | NP_002935.2:p.Gly365Ala |