Linked Data
dbSNP Id:
rs367796472
ExAC:
X:65825017 G / A
gnomAD v2:
X-65825017-G-A
gnomAD v3:
X-66605175-G-A
gnomAD v4:
X-66605175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.66605175G>A , CM000685.2:g.66605175G>A | GRCh38 |
| NC_000023.10:g.65825017G>A , CM000685.1:g.65825017G>A | GRCh37 |
| NC_000023.9:g.65741742G>A | NCBI36 |
| NG_013271.2:g.39092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374719.8:c.139C>T MANE Select | ENSP00000363851.3:p.Arg47Cys | |
| ENST00000253392.5:c.139C>T | ENSP00000253392.5:p.Arg47Cys | |
| ENST00000374719.7:c.139C>T | ENSP00000363851.3:p.Arg47Cys | |
| ENST00000396050.5:c.139C>T | ENSP00000379365.2:p.Arg47Cys | |
| ENST00000451436.6:c.139C>T | ENSP00000415242.3:p.Arg47Cys | |
| NM_001199687.2:c.139C>T | NP_001186616.1:p.Arg47Cys | |
| NM_001242310.1:c.139C>T | NP_001229239.1:p.Arg47Cys | |
| NM_021783.3:c.139C>T | NP_068555.1:p.Arg47Cys | |
| XM_005262285.2:c.72-2378C>T | XP_005262342.1:n.72-2378C>T | |
| XM_006724675.2:c.139C>T | XP_006724738.1:p.Arg47Cys | |
| XM_011531000.1:c.139C>T | XP_011529302.1:p.Arg47Cys | |
| XM_011531001.1:c.139C>T | XP_011529303.1:p.Arg47Cys | |
| XM_011531002.1:c.139C>T | XP_011529304.1:p.Arg47Cys | |
| XM_011531003.1:c.139C>T | XP_011529305.1:p.Arg47Cys | |
| XM_011531004.1:c.139C>T | XP_011529306.1:p.Arg47Cys | |
| XM_011531005.1:c.72-2378C>T | XP_011529307.1:n.72-2378C>T | |
| XM_011531006.1:c.139C>T | XP_011529308.1:p.Arg47Cys | |
| XM_011531007.1:c.139C>T | XP_011529309.1:p.Arg47Cys | |
| XR_244499.2:n.249C>T | ||
| XR_938404.1:n.199C>T | ||
| XR_938405.1:n.249C>T | ||
| XR_938406.1:n.244C>T | ||
| NM_001324199.1:c.72-2378C>T | NP_001311128.1:n.72-2378C>T | |
| NM_001324201.1:c.123C>T | NP_001311130.1:p.Leu41= | |
| NM_001324202.1:c.72-2378C>T | NP_001311131.1:n.72-2378C>T | |
| NM_001324204.1:c.56-2378C>T | NP_001311133.1:n.56-2378C>T | |
| NM_001324205.1:c.56-2378C>T | NP_001311134.1:n.56-2378C>T | |
| NM_001324206.1:c.139C>T | NP_001311135.1:p.Arg47Cys | |
| NM_021783.4:c.139C>T | NP_068555.1:p.Arg47Cys | |
| NR_136726.1:n.247C>T | ||
| NR_136727.1:n.249C>T | ||
| XM_011531003.2:c.139C>T | XP_011529305.1:p.Arg47Cys | |
| XM_011531005.2:c.72-2378C>T | XP_011529307.1:n.72-2378C>T | |
| XM_011531006.2:c.139C>T | XP_011529308.1:p.Arg47Cys | |
| XM_011531007.2:c.139C>T | XP_011529309.1:p.Arg47Cys | |
| XM_017029703.1:c.123C>T | XP_016885192.1:p.Leu41= | |
| XM_017029704.1:c.139C>T | XP_016885193.1:p.Arg47Cys | |
| XM_017029705.1:c.56-2378C>T | XP_016885194.1:n.56-2378C>T | |
| XM_017029706.1:c.139C>T | XP_016885195.1:p.Arg47Cys | |
| XM_017029707.1:c.72-2378C>T | XP_016885196.1:n.72-2378C>T | |
| XM_017029708.1:c.72-2378C>T | XP_016885197.1:n.72-2378C>T | |
| XR_938405.2:n.239C>T | ||
| NM_021783.5:c.139C>T MANE Select | NP_068555.2:p.Arg47Cys | |
| NM_001324199.2:c.72-2378C>T | NP_001311128.2:n.72-2378C>T | |
| NM_001324201.2:c.123C>T | NP_001311130.2:p.Leu41= | |
| NM_001324202.2:c.72-2378C>T | NP_001311131.2:n.72-2378C>T | |
| NM_001324204.2:c.56-2378C>T | NP_001311133.2:n.56-2378C>T | |
| NM_001324205.2:c.56-2378C>T | NP_001311134.2:n.56-2378C>T | |
| NM_001324206.2:c.139C>T | NP_001311135.2:p.Arg47Cys | |
| NR_136726.2:n.218C>T | ||
| NR_136727.2:n.233C>T | ||
| NM_001199687.3:c.139C>T | NP_001186616.2:p.Arg47Cys |