Linked Data
ClinVar Variation Id:
1441537
ClinVar RCV Id:
RCV001939290
dbSNP Id:
rs2130718366
gnomAD v4:
8-144516128-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144516128C>T , CM000670.2:g.144516128C>T | GRCh38 |
| NC_000008.10:g.145741512C>T , CM000670.1:g.145741512C>T | GRCh37 |
| NC_000008.9:g.145712320C>T | NCBI36 |
| NG_016430.1:g.6699G>A | |
| NG_033083.1:g.3164C>T | |
| NG_016430.2:g.6699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.991G>A MANE Select | ENSP00000482313.2:p.Gly331Arg | |
| ENST00000524998.1:c.513G>A | ||
| ENST00000617875.4:c.991G>A | ENSP00000482313.1:p.Gly331Arg | |
| ENST00000621189.4:c.-81G>A | ENSP00000483145.1:n.-81G>A | |
| NM_004260.3:c.991G>A | NP_004251.3:p.Gly331Arg | |
| XM_011517380.1:c.991G>A | XP_011515682.1:p.Gly331Arg | |
| XM_011517381.1:c.953+38G>A | XP_011515683.1:n.953+38G>A | |
| XM_011517382.1:c.991G>A | XP_011515684.1:p.Gly331Arg | |
| XM_011517383.1:c.991G>A | XP_011515685.1:p.Gly331Arg | |
| XM_011517384.1:c.991G>A | XP_011515686.1:p.Gly331Arg | |
| XR_928366.1:n.1032G>A | ||
| XR_928367.1:n.1032G>A | ||
| XR_928368.1:n.1034G>A | ||
| XM_011517384.3:c.991G>A | XP_011515686.1:p.Gly331Arg | |
| XM_017013991.2:c.991G>A | XP_016869480.1:p.Gly331Arg | |
| XM_017013992.2:c.991G>A | XP_016869481.1:p.Gly331Arg | |
| XM_017013993.2:c.991G>A | XP_016869482.1:p.Gly331Arg | |
| XM_017013994.2:c.953+38G>A | XP_016869483.1:n.953+38G>A | |
| XM_017013995.2:c.991G>A | XP_016869484.1:p.Gly331Arg | |
| XM_017013996.2:c.991G>A | XP_016869485.1:p.Gly331Arg | |
| XM_017013997.2:c.991G>A | XP_016869486.1:p.Gly331Arg | |
| XM_017013998.1:c.991G>A | XP_016869487.1:p.Gly331Arg | |
| XM_017013999.2:c.991G>A | XP_016869488.1:p.Gly331Arg | |
| XM_017014001.2:c.-143G>A | XP_016869490.1:n.-143G>A | |
| XR_001745626.2:n.1028G>A | ||
| XR_001745627.2:n.1028G>A | ||
| XR_001745628.2:n.1028G>A | ||
| XR_001745629.2:n.1028G>A | ||
| XR_001745630.2:n.1028G>A | ||
| NM_004260.4:c.991G>A MANE Select | NP_004251.4:p.Gly331Arg |