Linked Data
ClinVar Variation Id:
2454020
ClinVar RCV Id:
RCV003188155
dbSNP Id:
rs760434323
ExAC:
1:237841410 A / G
gnomAD v2:
1-237841410-A-G
gnomAD v4:
1-237678110-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237678110A>G , CM000663.2:g.237678110A>G | GRCh38 |
| NC_000001.10:g.237841410A>G , CM000663.1:g.237841410A>G | GRCh37 |
| NC_000001.9:g.235908033A>G | NCBI36 |
| NG_008799.2:g.640709A>G | |
| NG_008799.3:g.640927A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.8831-2346A>G | ENSP00000499659.2:n.8831-2346A>G | |
| ENST00000659194.3:c.8893A>G | ENSP00000499653.3:p.Lys2965Glu | |
| ENST00000660292.2:c.8893A>G | ENSP00000499787.2:p.Lys2965Glu | |
| ENST00000659194.2:c.1082A>G | ||
| ENST00000366574.7:c.8893A>G MANE Select | ENSP00000355533.2:p.Lys2965Glu | |
| ENST00000659194.1:c.1082A>G | ||
| ENST00000360064.7:c.8845A>G | ENSP00000353174.7:p.Lys2949Glu | |
| ENST00000366574.6:c.8893A>G | ENSP00000355533.2:p.Lys2965Glu | |
| ENST00000609119.1:n.84-2346A>G | ||
| NM_001035.2:c.8893A>G | NP_001026.2:p.Lys2965Glu | |
| XM_006711802.2:c.8923A>G | XP_006711865.1:p.Lys2975Glu | |
| XM_006711803.2:c.8920A>G | XP_006711866.1:p.Lys2974Glu | |
| XM_006711804.2:c.8923A>G | XP_006711867.1:p.Lys2975Glu | |
| XM_006711805.2:c.8893A>G | XP_006711868.1:p.Lys2965Glu | |
| XM_006711806.2:c.8923A>G | XP_006711869.1:p.Lys2975Glu | |
| XM_006711807.2:c.8923A>G | XP_006711870.1:p.Lys2975Glu | |
| XM_006711808.2:c.8860+3264A>G | XP_006711871.1:n.8860+3264A>G | |
| XM_006711810.2:c.8890A>G | XP_006711873.1:p.Lys2964Glu | |
| XR_949152.1:n.9204A>G | ||
| XM_006711802.3:c.8923A>G | XP_006711865.1:p.Lys2975Glu | |
| XM_006711803.3:c.8920A>G | XP_006711866.1:p.Lys2974Glu | |
| XM_006711804.3:c.8923A>G | XP_006711867.1:p.Lys2975Glu | |
| XM_006711805.3:c.8893A>G | XP_006711868.1:p.Lys2965Glu | |
| XM_006711806.3:c.8923A>G | XP_006711869.1:p.Lys2975Glu | |
| XM_006711807.3:c.8923A>G | XP_006711870.1:p.Lys2975Glu | |
| XM_006711808.3:c.8860+3264A>G | XP_006711871.1:n.8860+3264A>G | |
| XM_006711810.3:c.8890A>G | XP_006711873.1:p.Lys2964Glu | |
| XM_017002028.1:c.8902A>G | XP_016857517.1:p.Lys2968Glu | |
| XR_949152.2:n.9237A>G | ||
| NM_001035.3:c.8893A>G MANE Select | NP_001026.2:p.Lys2965Glu |