Linked Data
ClinVar Variation Id:
2607383
ClinVar RCV Id:
RCV003355260
dbSNP Id:
rs1300502222
gnomAD v2:
2-209191038-A-G
gnomAD v4:
2-208326314-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208326314A>G , CM000664.2:g.208326314A>G | GRCh38 |
| NC_000002.11:g.209191038A>G , CM000664.1:g.209191038A>G | GRCh37 |
| NC_000002.10:g.208899283A>G | NCBI36 |
| NG_021188.1:g.65048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.3503A>G MANE Select | ENSP00000264380.4:p.Asp1168Gly | |
| ENST00000264380.8:c.3503A>G | ENSP00000264380.4:p.Asp1168Gly | |
| ENST00000452564.1:c.3335A>G | ENSP00000405736.1:p.Asp1112Gly | |
| NM_015040.3:c.3503A>G | NP_055855.2:p.Asp1168Gly | |
| XM_011510778.1:c.3539A>G | XP_011509080.1:p.Asp1180Gly | |
| XM_011510779.1:c.3539A>G | XP_011509081.1:p.Asp1180Gly | |
| XM_011510780.1:c.3536A>G | XP_011509082.1:p.Asp1179Gly | |
| XM_011510781.1:c.3521A>G | XP_011509083.1:p.Asp1174Gly | |
| XM_011510782.1:c.3539A>G | XP_011509084.1:p.Asp1180Gly | |
| XM_011510783.1:c.3371A>G | XP_011509085.1:p.Asp1124Gly | |
| XM_011510784.1:c.3368A>G | XP_011509086.1:p.Asp1123Gly | |
| XM_011510785.1:c.3353A>G | XP_011509087.1:p.Asp1118Gly | |
| XM_011510786.1:c.3248A>G | XP_011509088.1:p.Asp1083Gly | |
| XM_011510787.1:c.3245A>G | XP_011509089.1:p.Asp1082Gly | |
| XM_011510788.1:c.3212A>G | XP_011509090.1:p.Asp1071Gly | |
| XM_011510789.1:c.3062A>G | XP_011509091.1:p.Asp1021Gly | |
| XM_011510790.1:c.2546A>G | XP_011509092.1:p.Asp849Gly | |
| XM_011510791.1:c.2546A>G | XP_011509093.1:p.Asp849Gly | |
| XM_011510792.1:c.3539A>G | XP_011509094.1:p.Asp1180Gly | |
| XR_922888.1:n.3676A>G | ||
| XM_011510778.3:c.3539A>G | XP_011509080.1:p.Asp1180Gly | |
| XM_011510779.2:c.3539A>G | XP_011509081.1:p.Asp1180Gly | |
| XM_011510780.2:c.3536A>G | XP_011509082.1:p.Asp1179Gly | |
| XM_011510781.3:c.3521A>G | XP_011509083.1:p.Asp1174Gly | |
| XM_011510782.3:c.3539A>G | XP_011509084.1:p.Asp1180Gly | |
| XM_011510783.3:c.3371A>G | XP_011509085.1:p.Asp1124Gly | |
| XM_011510784.2:c.3368A>G | XP_011509086.1:p.Asp1123Gly | |
| XM_011510785.3:c.3353A>G | XP_011509087.1:p.Asp1118Gly | |
| XM_011510786.3:c.3248A>G | XP_011509088.1:p.Asp1083Gly | |
| XM_011510789.2:c.3062A>G | XP_011509091.1:p.Asp1021Gly | |
| XM_011510792.3:c.3539A>G | XP_011509094.1:p.Asp1180Gly | |
| XM_017003568.1:c.3485A>G | XP_016859057.1:p.Asp1162Gly | |
| XM_017003569.1:c.3317A>G | XP_016859058.1:p.Asp1106Gly | |
| XM_017003570.1:c.3044A>G | XP_016859059.1:p.Asp1015Gly | |
| XM_017003571.1:c.2894A>G | XP_016859060.1:p.Asp965Gly | |
| XM_017003572.1:c.2546A>G | XP_016859061.1:p.Asp849Gly | |
| XM_017003573.1:c.2546A>G | XP_016859062.1:p.Asp849Gly | |
| XM_017003574.1:c.2546A>G | XP_016859063.1:p.Asp849Gly | |
| NM_015040.4:c.3503A>G MANE Select | NP_055855.2:p.Asp1168Gly |