Linked Data
ClinVar Variation Id:
705917
ClinVar RCV Id:
RCV000876358
dbSNP Id:
rs201041526
ExAC:
2:121555025 A / C
gnomAD v2:
2-121555025-A-C
gnomAD v3:
2-120797449-A-C
gnomAD v4:
2-120797449-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120797449A>C , CM000664.2:g.120797449A>C | GRCh38 |
| NC_000002.11:g.121555025A>C , CM000664.1:g.121555025A>C | GRCh37 |
| NC_000002.10:g.121271495A>C | NCBI36 |
| NG_009030.1:g.5159A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.129A>C MANE Select | ENSP00000354586.5:p.Ala43= | |
| ENST00000418323.6:c.129A>C | ENSP00000398992.1:p.Ala43= | |
| ENST00000452319.6:c.129A>C | ENSP00000390436.1:p.Ala43= | |
| ENST00000482119.6:c.129A>C | ENSP00000502423.1:p.Ala43= | |
| ENST00000314490.15:c.-159A>C | ENSP00000312694.12:n.-159A>C | |
| ENST00000341310.10:c.129A>C | ENSP00000344473.6:p.Ala43= | |
| ENST00000360874.10:c.105A>C | ENSP00000441454.1:p.Ala35= | |
| ENST00000361492.8:c.129A>C | ENSP00000354586.4:p.Ala43= | |
| ENST00000418323.5:c.129A>C | ENSP00000398992.1:p.Ala43= | |
| ENST00000433812.1:c.105A>C | ENSP00000402383.1:p.Ala35= | |
| ENST00000435313.6:n.154A>C | ||
| ENST00000437950.5:c.129A>C | ENSP00000415773.1:p.Ala43= | |
| ENST00000438299.5:c.129A>C | ENSP00000400593.1:p.Ala43= | |
| ENST00000445186.5:c.129A>C | ENSP00000397488.1:p.Ala43= | |
| ENST00000452319.5:c.129A>C | ENSP00000390436.1:p.Ala43= | |
| ENST00000452692.5:c.129A>C | ENSP00000403715.1:p.Ala43= | |
| ENST00000472722.5:n.218A>C | ||
| ENST00000482119.5:n.218A>C | ||
| NM_005270.4:c.129A>C | NP_005261.2:p.Ala43= | |
| XM_006712422.1:c.129A>C | XP_006712485.1:p.Ala43= | |
| XM_011510973.1:c.-141A>C | XP_011509275.1:n.-141A>C | |
| XM_011510974.1:c.-141A>C | XP_011509276.1:n.-141A>C | |
| XM_006712422.3:c.129A>C | XP_006712485.1:p.Ala43= | |
| XM_011510973.2:c.-141A>C | XP_011509275.1:n.-141A>C | |
| XM_011510974.2:c.-141A>C | XP_011509276.1:n.-141A>C | |
| XM_024452794.1:c.129A>C | XP_024308562.1:p.Ala43= | |
| XM_024452795.1:c.129A>C | XP_024308563.1:p.Ala43= | |
| NM_001371271.1:c.129A>C | NP_001358200.1:p.Ala43= | |
| NM_001374353.1:c.129A>C MANE Select | NP_001361282.1:p.Ala43= | |
| NM_001374354.1:c.-141A>C | NP_001361283.1:n.-141A>C | |
| NM_005270.5:c.129A>C | NP_005261.2:p.Ala43= |