CIViC:
COSMIC:
COSM3759583 (not active)
COSM3759584 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29704751 (AMR)
Genomes Max Group AF
0.25056115 (AMR)
Exomes Max Group AF
0.31119949 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.105720182G>A , CM000665.2:g.105720182G>A | GRCh38 |
| NC_000003.11:g.105439026G>A , CM000665.1:g.105439026G>A | GRCh37 |
| NC_000003.10:g.106921716G>A | NCBI36 |
| NG_055547.1:g.154371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394030.8:c.1272C>T MANE Select | ENSP00000377598.4:p.Asp424= | |
| ENST00000643322.1:c.1338C>T | ENSP00000496352.1:p.Asp446= | |
| ENST00000645425.1:c.1272C>T | ENSP00000494383.1:p.Asp424= | |
| ENST00000645759.1:c.*815C>T | ENSP00000496297.1:n.*815C>T | |
| ENST00000646499.1:c.*888C>T | ENSP00000496708.1:n.*888C>T | |
| ENST00000646825.1:c.1272C>T | ENSP00000496761.1:p.Asp424= | |
| ENST00000264122.8:c.1272C>T | ENSP00000264122.4:p.Asp424= | |
| ENST00000403724.5:c.1272C>T | ENSP00000384816.1:p.Asp424= | |
| ENST00000405772.5:c.1272C>T | ENSP00000384938.1:p.Asp424= | |
| NM_170662.3:c.1272C>T | NP_733762.2:p.Asp424= | |
| XM_005247853.2:c.1272C>T | XP_005247910.1:p.Asp424= | |
| XM_011513257.1:c.1272C>T | XP_011511559.1:p.Asp424= | |
| XM_011513258.1:c.1272C>T | XP_011511560.1:p.Asp424= | |
| XM_011513259.1:c.1272C>T | XP_011511561.1:p.Asp424= | |
| XR_924204.1:n.1286C>T | ||
| XR_924205.1:n.1286C>T | ||
| XR_924206.1:n.1286C>T | ||
| NM_001321786.1:c.1356C>T | NP_001308715.1:p.Asp452= | |
| NM_001321788.1:c.1272C>T | NP_001308717.1:p.Asp424= | |
| NM_001321789.1:c.1356C>T | NP_001308718.1:p.Asp452= | |
| NM_001321790.1:c.1338C>T | NP_001308719.1:p.Asp446= | |
| NM_001321791.1:c.1272C>T | NP_001308720.1:p.Asp424= | |
| NM_001321793.1:c.1272C>T | NP_001308722.1:p.Asp424= | |
| NM_001321794.1:c.1272C>T | NP_001308723.1:p.Asp424= | |
| NM_001321795.1:c.1272C>T | NP_001308724.1:p.Asp424= | |
| NM_001321796.1:c.1125C>T | NP_001308725.1:p.Asp375= | |
| NM_001321797.1:c.1272C>T | NP_001308726.1:p.Asp424= | |
| NM_001321798.1:c.1272C>T | NP_001308727.1:p.Asp424= | |
| NM_001321799.1:c.1125C>T | NP_001308728.1:p.Asp375= | |
| NM_001321806.1:c.492C>T | NP_001308735.1:p.Asp164= | |
| NM_001321807.1:c.492C>T | NP_001308736.1:p.Asp164= | |
| NM_001321808.1:c.492C>T | NP_001308737.1:p.Asp164= | |
| NM_001321811.1:c.492C>T | NP_001308740.1:p.Asp164= | |
| NM_001321813.1:c.492C>T | NP_001308742.1:p.Asp164= | |
| NM_001321816.1:c.492C>T | NP_001308745.1:p.Asp164= | |
| NM_001321820.1:c.84C>T | NP_001308749.1:p.Asp28= | |
| NM_001321822.1:c.-58C>T | NP_001308751.1:n.-58C>T | |
| NM_170662.5:c.1272C>T MANE Select | NP_733762.2:p.Asp424= | |
| NR_135806.1:n.1726C>T | ||
| NR_135807.1:n.1642C>T | ||
| NR_135808.1:n.1594C>T | ||
| NR_135809.1:n.1594C>T | ||
| NR_135810.1:n.1372C>T | ||
| NR_135811.1:n.1418C>T | ||
| NR_135812.1:n.1314C>T | ||
| XM_011513259.3:c.1356C>T | XP_011511561.2:p.Asp452= | |
| XM_017007395.1:c.1338C>T | XP_016862884.1:p.Asp446= | |
| XM_017007396.1:c.1356C>T | XP_016862885.1:p.Asp452= | |
| XM_017007397.1:c.1209C>T | XP_016862886.1:p.Asp403= | |
| XM_017007398.1:c.1191C>T | XP_016862887.1:p.Asp397= | |
| XM_017007399.1:c.1125C>T | XP_016862888.1:p.Asp375= | |
| XM_017007400.1:c.1209C>T | XP_016862889.1:p.Asp403= | |
| XR_001740338.1:n.1539C>T | ||
| XR_001740339.1:n.1539C>T | ||
| NM_001321788.2:c.1272C>T | NP_001308717.1:p.Asp424= | |
| NM_001321790.2:c.1338C>T | NP_001308719.1:p.Asp446= | |
| NM_001321791.2:c.1272C>T | NP_001308720.1:p.Asp424= | |
| NM_001321793.2:c.1272C>T | NP_001308722.1:p.Asp424= | |
| NM_001321794.2:c.1272C>T | NP_001308723.1:p.Asp424= | |
| NM_001321795.2:c.1272C>T | NP_001308724.1:p.Asp424= | |
| NM_001321796.2:c.1125C>T | NP_001308725.1:p.Asp375= | |
| NM_001321797.2:c.1272C>T | NP_001308726.1:p.Asp424= | |
| NM_001321798.2:c.1272C>T | NP_001308727.1:p.Asp424= | |
| NM_001321799.2:c.1125C>T | NP_001308728.1:p.Asp375= | |
| NM_001321806.2:c.492C>T | NP_001308735.1:p.Asp164= | |
| NM_001321807.2:c.492C>T | NP_001308736.1:p.Asp164= | |
| NM_001321808.2:c.492C>T | NP_001308737.1:p.Asp164= | |
| NM_001321811.2:c.492C>T | NP_001308740.1:p.Asp164= | |
| NM_001321816.2:c.492C>T | NP_001308745.1:p.Asp164= | |
| NM_001321820.2:c.84C>T | NP_001308749.1:p.Asp28= | |
| NM_001321822.2:c.-58C>T | NP_001308751.1:n.-58C>T | |
| NR_135806.2:n.1695C>T | ||
| NR_135807.2:n.1611C>T | ||
| NR_135808.2:n.1563C>T | ||
| NR_135809.2:n.1563C>T | ||
| NR_135810.2:n.1351C>T | ||
| NR_135811.2:n.1387C>T |