Linked Data
dbSNP Id:
rs757152923
ExAC:
1:979276 G / C
gnomAD v2:
1-979276-G-C
gnomAD v4:
1-1043896-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1043896G>C , CM000663.2:g.1043896G>C | GRCh38 |
| NC_000001.10:g.979276G>C , CM000663.1:g.979276G>C | GRCh37 |
| NC_000001.9:g.969139G>C | NCBI36 |
| NG_016346.1:g.28774G>C , LRG_198:g.28774G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1872G>C MANE Select | ENSP00000368678.2:p.Glu624Asp | |
| ENST00000651234.1:c.1557G>C | ENSP00000499046.1:p.Glu519Asp | |
| ENST00000652369.1:c.1557G>C | ENSP00000498543.1:p.Glu519Asp | |
| ENST00000379370.6:c.1872G>C | ENSP00000368678.2:p.Glu624Asp | |
| ENST00000620552.4:c.1458G>C | ENSP00000484607.1:p.Glu486Asp | |
| NM_001305275.1:c.1872G>C | NP_001292204.1:p.Glu624Asp | |
| NM_198576.3:c.1872G>C | NP_940978.2:p.Glu624Asp | |
| XM_005244749.2:c.1872G>C | XP_005244806.1:p.Glu624Asp | |
| XM_006710635.2:c.1872G>C | XP_006710698.1:p.Glu624Asp | |
| XM_011541429.1:c.1872G>C | XP_011539731.1:p.Glu624Asp | |
| XM_011541430.1:c.999G>C | XP_011539732.1:p.Glu333Asp | |
| XM_011541431.1:c.138G>C | XP_011539733.1:p.Glu46Asp | |
| XR_946650.1:n.1939G>C | ||
| NM_001364727.1:c.1557G>C | NP_001351656.1:p.Glu519Asp | |
| XM_005244749.3:c.1872G>C | XP_005244806.1:p.Glu624Asp | |
| XM_011541429.2:c.1872G>C | XP_011539731.1:p.Glu624Asp | |
| XR_946650.2:n.1943G>C | ||
| NM_001305275.2:c.1872G>C | NP_001292204.1:p.Glu624Asp | |
| NM_198576.4:c.1872G>C MANE Select | NP_940978.2:p.Glu624Asp | |
| NM_001364727.2:c.1557G>C | NP_001351656.1:p.Glu519Asp |