Linked Data
ClinVar Variation Id:
418244
ClinVar RCV Id:
RCV000486458
dbSNP Id:
rs1064793145
gnomAD v4:
X-153950250-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153950250C>A , CM000685.2:g.153950250C>A | GRCh38 |
| NC_000023.10:g.153215701C>A , CM000685.1:g.153215701C>A | GRCh37 |
| NC_000023.9:g.152868895C>A | NCBI36 |
| NG_012513.1:g.26119G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310441.12:c.5997G>T MANE Select | ENSP00000309555.7:p.Trp1999Cys | |
| ENST00000310441.11:c.5997G>T | ENSP00000309555.7:p.Trp1999Cys | |
| ENST00000369984.4:c.6132G>T | ENSP00000359001.4:p.Trp2044Cys | |
| ENST00000444191.5:c.1723G>T | ||
| NM_005334.2:c.5997G>T | NP_005325.2:p.Trp1999Cys | |
| XM_006724815.1:c.6132G>T | XP_006724878.1:p.Trp2044Cys | |
| XM_006724816.1:c.6129G>T | XP_006724879.1:p.Trp2043Cys | |
| XM_011531144.1:c.6141G>T | XP_011529446.1:p.Trp2047Cys | |
| XM_011531145.1:c.6138G>T | XP_011529447.1:p.Trp2046Cys | |
| XM_011531146.1:c.6138G>T | XP_011529448.1:p.Trp2046Cys | |
| XM_011531147.1:c.6009G>T | XP_011529449.1:p.Trp2003Cys | |
| XM_011531148.1:c.6006G>T | XP_011529450.1:p.Trp2002Cys | |
| XM_011531149.1:c.5943G>T | XP_011529451.1:p.Trp1981Cys | |
| XM_011531150.1:c.5232G>T | XP_011529452.1:p.Trp1744Cys | |
| XM_006724815.3:c.6132G>T | XP_006724878.1:p.Trp2044Cys | |
| XM_006724816.3:c.6129G>T | XP_006724879.1:p.Trp2043Cys | |
| XM_011531147.3:c.6009G>T | XP_011529449.1:p.Trp2003Cys | |
| XM_011531148.3:c.6006G>T | XP_011529450.1:p.Trp2002Cys | |
| XM_017029471.2:c.5931G>T | XP_016884960.1:p.Trp1977Cys | |
| XM_017029472.1:c.5220G>T | XP_016884961.1:p.Trp1740Cys | |
| NM_005334.3:c.5997G>T MANE Select | NP_005325.2:p.Trp1999Cys |