Linked Data
dbSNP Id:
rs1385699
ExAC:
X:65824986 C / T
gnomAD v2:
X-65824986-C-T
gnomAD v3:
X-66605144-C-T
gnomAD v4:
X-66605144-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.66605144C>T , CM000685.2:g.66605144C>T | GRCh38 |
| NC_000023.10:g.65824986C>T , CM000685.1:g.65824986C>T | GRCh37 |
| NC_000023.9:g.65741711C>T | NCBI36 |
| NG_013271.2:g.39123G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374719.8:c.170G>A MANE Select | ENSP00000363851.3:p.Arg57Lys | |
| ENST00000253392.5:c.170G>A | ENSP00000253392.5:p.Arg57Lys | |
| ENST00000374719.7:c.170G>A | ENSP00000363851.3:p.Arg57Lys | |
| ENST00000396050.5:c.170G>A | ENSP00000379365.2:p.Arg57Lys | |
| ENST00000451436.6:c.170G>A | ENSP00000415242.3:p.Arg57Lys | |
| NM_001199687.2:c.170G>A | NP_001186616.1:p.Arg57Lys | |
| NM_001242310.1:c.170G>A | NP_001229239.1:p.Arg57Lys | |
| NM_021783.3:c.170G>A | NP_068555.1:p.Arg57Lys | |
| XM_005262285.2:c.72-2347G>A | XP_005262342.1:n.72-2347G>A | |
| XM_006724675.2:c.170G>A | XP_006724738.1:p.Arg57Lys | |
| XM_011531000.1:c.170G>A | XP_011529302.1:p.Arg57Lys | |
| XM_011531001.1:c.170G>A | XP_011529303.1:p.Arg57Lys | |
| XM_011531002.1:c.170G>A | XP_011529304.1:p.Arg57Lys | |
| XM_011531003.1:c.170G>A | XP_011529305.1:p.Arg57Lys | |
| XM_011531004.1:c.170G>A | XP_011529306.1:p.Arg57Lys | |
| XM_011531005.1:c.72-2347G>A | XP_011529307.1:n.72-2347G>A | |
| XM_011531006.1:c.170G>A | XP_011529308.1:p.Arg57Lys | |
| XM_011531007.1:c.170G>A | XP_011529309.1:p.Arg57Lys | |
| XR_244499.2:n.280G>A | ||
| XR_938404.1:n.230G>A | ||
| XR_938405.1:n.280G>A | ||
| XR_938406.1:n.275G>A | ||
| NM_001324199.1:c.72-2347G>A | NP_001311128.1:n.72-2347G>A | |
| NM_001324201.1:c.154G>A | NP_001311130.1:p.Asp52Asn | |
| NM_001324202.1:c.72-2347G>A | NP_001311131.1:n.72-2347G>A | |
| NM_001324204.1:c.56-2347G>A | NP_001311133.1:n.56-2347G>A | |
| NM_001324205.1:c.56-2347G>A | NP_001311134.1:n.56-2347G>A | |
| NM_001324206.1:c.170G>A | NP_001311135.1:p.Arg57Lys | |
| NM_021783.4:c.170G>A | NP_068555.1:p.Arg57Lys | |
| NR_136726.1:n.278G>A | ||
| NR_136727.1:n.280G>A | ||
| XM_011531003.2:c.170G>A | XP_011529305.1:p.Arg57Lys | |
| XM_011531005.2:c.72-2347G>A | XP_011529307.1:n.72-2347G>A | |
| XM_011531006.2:c.170G>A | XP_011529308.1:p.Arg57Lys | |
| XM_011531007.2:c.170G>A | XP_011529309.1:p.Arg57Lys | |
| XM_017029703.1:c.154G>A | XP_016885192.1:p.Asp52Asn | |
| XM_017029704.1:c.170G>A | XP_016885193.1:p.Arg57Lys | |
| XM_017029705.1:c.56-2347G>A | XP_016885194.1:n.56-2347G>A | |
| XM_017029706.1:c.170G>A | XP_016885195.1:p.Arg57Lys | |
| XM_017029707.1:c.72-2347G>A | XP_016885196.1:n.72-2347G>A | |
| XM_017029708.1:c.72-2347G>A | XP_016885197.1:n.72-2347G>A | |
| XR_938405.2:n.270G>A | ||
| NM_021783.5:c.170G>A MANE Select | NP_068555.2:p.Arg57Lys | |
| NM_001324199.2:c.72-2347G>A | NP_001311128.2:n.72-2347G>A | |
| NM_001324201.2:c.154G>A | NP_001311130.2:p.Asp52Asn | |
| NM_001324202.2:c.72-2347G>A | NP_001311131.2:n.72-2347G>A | |
| NM_001324204.2:c.56-2347G>A | NP_001311133.2:n.56-2347G>A | |
| NM_001324205.2:c.56-2347G>A | NP_001311134.2:n.56-2347G>A | |
| NM_001324206.2:c.170G>A | NP_001311135.2:p.Arg57Lys | |
| NR_136726.2:n.249G>A | ||
| NR_136727.2:n.264G>A | ||
| NM_001199687.3:c.170G>A | NP_001186616.2:p.Arg57Lys |