COSMIC:
COSM149438 (not active)
COSM4002361 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13040118 (EAS)
Genomes Max Group AF
0.11314638 (EAS)
Exomes Max Group AF
0.13180017 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.105702190C>T , CM000665.2:g.105702190C>T | GRCh38 |
| NC_000003.11:g.105421034C>T , CM000665.1:g.105421034C>T | GRCh37 |
| NC_000003.10:g.106903724C>T | NCBI36 |
| NG_055547.1:g.172363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394030.8:c.1863G>A MANE Select | ENSP00000377598.4:p.Ala621= | |
| ENST00000643322.1:c.1929G>A | ENSP00000496352.1:p.Ala643= | |
| ENST00000645425.1:c.1863G>A | ENSP00000494383.1:p.Ala621= | |
| ENST00000645759.1:c.*1406G>A | ENSP00000496297.1:n.*1406G>A | |
| ENST00000646499.1:c.*1479G>A | ENSP00000496708.1:n.*1479G>A | |
| ENST00000646825.1:c.1863G>A | ENSP00000496761.1:p.Ala621= | |
| ENST00000264122.8:c.1863G>A | ENSP00000264122.4:p.Ala621= | |
| ENST00000394030.6:c.12G>A | ENSP00000377598.2:p.Ala4= | |
| ENST00000403724.5:c.1863G>A | ENSP00000384816.1:p.Ala621= | |
| ENST00000405772.5:c.1863G>A | ENSP00000384938.1:p.Ala621= | |
| NM_170662.3:c.1863G>A | NP_733762.2:p.Ala621= | |
| XM_005247853.2:c.1863G>A | XP_005247910.1:p.Ala621= | |
| XM_011513257.1:c.1863G>A | XP_011511559.1:p.Ala621= | |
| XM_011513258.1:c.1863G>A | XP_011511560.1:p.Ala621= | |
| XM_011513259.1:c.1863G>A | XP_011511561.1:p.Ala621= | |
| XR_924204.1:n.1877G>A | ||
| XR_924205.1:n.1877G>A | ||
| XR_924206.1:n.1877G>A | ||
| NM_001321786.1:c.1947G>A | NP_001308715.1:p.Ala649= | |
| NM_001321788.1:c.1863G>A | NP_001308717.1:p.Ala621= | |
| NM_001321789.1:c.1947G>A | NP_001308718.1:p.Ala649= | |
| NM_001321790.1:c.1929G>A | NP_001308719.1:p.Ala643= | |
| NM_001321791.1:c.1863G>A | NP_001308720.1:p.Ala621= | |
| NM_001321793.1:c.1863G>A | NP_001308722.1:p.Ala621= | |
| NM_001321794.1:c.1863G>A | NP_001308723.1:p.Ala621= | |
| NM_001321795.1:c.1863G>A | NP_001308724.1:p.Ala621= | |
| NM_001321796.1:c.1716G>A | NP_001308725.1:p.Ala572= | |
| NM_001321797.1:c.1863G>A | NP_001308726.1:p.Ala621= | |
| NM_001321798.1:c.1863G>A | NP_001308727.1:p.Ala621= | |
| NM_001321799.1:c.1716G>A | NP_001308728.1:p.Ala572= | |
| NM_001321806.1:c.1083G>A | NP_001308735.1:p.Ala361= | |
| NM_001321807.1:c.1083G>A | NP_001308736.1:p.Ala361= | |
| NM_001321808.1:c.1083G>A | NP_001308737.1:p.Ala361= | |
| NM_001321811.1:c.1083G>A | NP_001308740.1:p.Ala361= | |
| NM_001321813.1:c.1083G>A | NP_001308742.1:p.Ala361= | |
| NM_001321816.1:c.1083G>A | NP_001308745.1:p.Ala361= | |
| NM_001321820.1:c.675G>A | NP_001308749.1:p.Ala225= | |
| NM_001321822.1:c.534G>A | NP_001308751.1:p.Ala178= | |
| NM_170662.5:c.1863G>A MANE Select | NP_733762.2:p.Ala621= | |
| NR_135806.1:n.2317G>A | ||
| NR_135807.1:n.2233G>A | ||
| NR_135808.1:n.2185G>A | ||
| NR_135809.1:n.2299G>A | ||
| NR_135810.1:n.1963G>A | ||
| NR_135811.1:n.2009G>A | ||
| NR_135812.1:n.1905G>A | ||
| XM_011513259.3:c.1947G>A | XP_011511561.2:p.Ala649= | |
| XM_017007395.1:c.1929G>A | XP_016862884.1:p.Ala643= | |
| XM_017007396.1:c.1947G>A | XP_016862885.1:p.Ala649= | |
| XM_017007397.1:c.1800G>A | XP_016862886.1:p.Ala600= | |
| XM_017007398.1:c.1782G>A | XP_016862887.1:p.Ala594= | |
| XM_017007399.1:c.1716G>A | XP_016862888.1:p.Ala572= | |
| XM_017007400.1:c.1800G>A | XP_016862889.1:p.Ala600= | |
| XR_001740338.1:n.2130G>A | ||
| XR_001740339.1:n.2130G>A | ||
| NM_001321788.2:c.1863G>A | NP_001308717.1:p.Ala621= | |
| NM_001321790.2:c.1929G>A | NP_001308719.1:p.Ala643= | |
| NM_001321791.2:c.1863G>A | NP_001308720.1:p.Ala621= | |
| NM_001321793.2:c.1863G>A | NP_001308722.1:p.Ala621= | |
| NM_001321794.2:c.1863G>A | NP_001308723.1:p.Ala621= | |
| NM_001321795.2:c.1863G>A | NP_001308724.1:p.Ala621= | |
| NM_001321796.2:c.1716G>A | NP_001308725.1:p.Ala572= | |
| NM_001321797.2:c.1863G>A | NP_001308726.1:p.Ala621= | |
| NM_001321798.2:c.1863G>A | NP_001308727.1:p.Ala621= | |
| NM_001321799.2:c.1716G>A | NP_001308728.1:p.Ala572= | |
| NM_001321806.2:c.1083G>A | NP_001308735.1:p.Ala361= | |
| NM_001321807.2:c.1083G>A | NP_001308736.1:p.Ala361= | |
| NM_001321808.2:c.1083G>A | NP_001308737.1:p.Ala361= | |
| NM_001321811.2:c.1083G>A | NP_001308740.1:p.Ala361= | |
| NM_001321816.2:c.1083G>A | NP_001308745.1:p.Ala361= | |
| NM_001321820.2:c.675G>A | NP_001308749.1:p.Ala225= | |
| NM_001321822.2:c.534G>A | NP_001308751.1:p.Ala178= | |
| NR_135806.2:n.2286G>A | ||
| NR_135807.2:n.2202G>A | ||
| NR_135808.2:n.2154G>A | ||
| NR_135809.2:n.2268G>A | ||
| NR_135810.2:n.1942G>A | ||
| NR_135811.2:n.1978G>A |