Linked Data
ClinVar Variation Id:
5739
ClinVar RCV Id:
RCV000006093
RCV000006094
RCV000086341
RCV000648818
RCV000786009
RCV001002998
RCV001073404
RCV003450617
dbSNP Id:
rs62636275
ExAC:
1:197404300 G / A
gnomAD v2:
1-197404300-G-A
gnomAD v3:
1-197435170-G-A
gnomAD v4:
1-197435170-G-A
COSMIC:
COSM1242154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197435170G>A , CM000663.2:g.197435170G>A | GRCh38 |
| NC_000001.10:g.197404300G>A , CM000663.1:g.197404300G>A | GRCh37 |
| NC_000001.9:g.195670923G>A | NCBI36 |
| NG_008483.1:g.171893G>A | |
| NG_008483.2:g.238709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.3307G>A MANE Select | ENSP00000356370.3:p.Gly1103Arg | |
| ENST00000638467.1:c.3307G>A | ENSP00000491102.1:p.Gly1103Arg | |
| ENST00000681519.1:c.2188G>A | ENSP00000505267.1:p.Gly730Arg | |
| ENST00000367397.1:c.1450G>A | ENSP00000356367.1:p.Gly484Arg | |
| ENST00000367399.6:c.2971G>A | ENSP00000356369.2:p.Gly991Arg | |
| ENST00000367400.7:c.3307G>A | ENSP00000356370.3:p.Gly1103Arg | |
| ENST00000484075.5:c.3307G>A | ENSP00000433932.1:p.Gly1103Arg | |
| ENST00000535699.5:c.3235G>A | ENSP00000438786.1:p.Gly1079Arg | |
| ENST00000538660.5:c.2129-430G>A | ENSP00000438091.1:n.2129-430G>A | |
| NM_001193640.1:c.2971G>A | NP_001180569.1:p.Gly991Arg | |
| NM_001257965.1:c.3235G>A | NP_001244894.1:p.Gly1079Arg | |
| NM_001257966.1:c.2129-430G>A | NP_001244895.1:n.2129-430G>A | |
| NM_201253.2:c.3307G>A | NP_957705.1:p.Gly1103Arg | |
| NR_047563.1:n.3308G>A | ||
| NR_047564.1:n.3516G>A | ||
| XM_011509365.1:c.3307G>A | XP_011507667.1:p.Gly1103Arg | |
| XM_011509366.1:c.3307G>A | XP_011507668.1:p.Gly1103Arg | |
| XM_011509367.1:c.3307G>A | XP_011507669.1:p.Gly1103Arg | |
| XM_011509368.1:c.2725G>A | XP_011507670.1:p.Gly909Arg | |
| XM_011509369.1:c.1750G>A | XP_011507671.1:p.Gly584Arg | |
| XM_011509365.2:c.3307G>A | XP_011507667.1:p.Gly1103Arg | |
| XM_011509369.2:c.1750G>A | XP_011507671.1:p.Gly584Arg | |
| XM_017000851.1:c.2464G>A | XP_016856340.1:p.Gly822Arg | |
| XM_017000852.1:c.3442G>A | XP_016856341.1:p.Gly1148Arg | |
| NM_201253.3:c.3307G>A MANE Select | NP_957705.1:p.Gly1103Arg | |
| NM_001193640.2:c.2971G>A | NP_001180569.1:p.Gly991Arg | |
| NM_001257965.2:c.3235G>A | NP_001244894.1:p.Gly1079Arg | |
| NR_047563.2:n.3260G>A | ||
| NR_047564.2:n.3468G>A | ||
| NM_001257966.2:c.2129-430G>A | NP_001244895.1:n.2129-430G>A |