Linked Data
ClinVar Variation Id:
373329
ClinVar RCV Id:
RCV000414305
dbSNP Id:
rs373225685
ExAC:
X:135751661 C / T
gnomAD v2:
X-135751661-C-T
gnomAD v3:
X-136669502-C-T
gnomAD v4:
X-136669502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136669502C>T , CM000685.2:g.136669502C>T | GRCh38 |
| NC_000023.10:g.135751661C>T , CM000685.1:g.135751661C>T | GRCh37 |
| NC_000023.9:g.135579327C>T | NCBI36 |
| NG_008873.1:g.116843G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250617.7:c.2170G>A MANE Select | ENSP00000250617.6:p.Glu724Lys | |
| ENST00000250617.6:c.2170G>A | ENSP00000250617.6:p.Glu724Lys | |
| ENST00000370620.5:c.1708G>A | ENSP00000359654.1:p.Glu570Lys | |
| ENST00000370622.5:c.1708G>A | ENSP00000359656.1:p.Glu570Lys | |
| NM_001306177.1:c.1708G>A | NP_001293106.1:p.Glu570Lys | |
| NM_004840.2:c.2170G>A | NP_004831.1:p.Glu724Lys | |
| XM_005262499.2:c.2023G>A | XP_005262556.1:p.Glu675Lys | |
| XM_011531412.1:c.2251G>A | XP_011529714.1:p.Glu751Lys | |
| XM_011531413.1:c.2182G>A | XP_011529715.1:p.Glu728Lys | |
| XM_011531414.1:c.2161G>A | XP_011529716.1:p.Glu721Lys | |
| XM_011531415.1:c.2080G>A | XP_011529717.1:p.Glu694Lys | |
| XM_011531416.1:c.1789G>A | XP_011529718.1:p.Glu597Lys | |
| XM_011531417.1:c.1720G>A | XP_011529719.1:p.Glu574Lys | |
| XM_005262499.3:c.2023G>A | XP_005262556.1:p.Glu675Lys | |
| XM_011531412.3:c.2251G>A | XP_011529714.1:p.Glu751Lys | |
| XM_011531413.2:c.2182G>A | XP_011529715.1:p.Glu728Lys | |
| XM_011531414.2:c.2161G>A | XP_011529716.1:p.Glu721Lys | |
| XM_011531415.3:c.2080G>A | XP_011529717.1:p.Glu694Lys | |
| XM_011531416.3:c.1789G>A | XP_011529718.1:p.Glu597Lys | |
| XM_017029975.2:c.2263G>A | XP_016885464.1:p.Glu755Lys | |
| NM_004840.3:c.2170G>A MANE Select | NP_004831.1:p.Glu724Lys | |
| NM_001306177.2:c.1708G>A | NP_001293106.1:p.Glu570Lys |