Linked Data
ClinVar Variation Id:
2050520
ClinVar RCV Id:
RCV002921950
dbSNP Id:
rs781986201
ExAC:
X:152857982 A / G
gnomAD v2:
X-152857982-A-G
gnomAD v3:
X-153592524-A-G
gnomAD v4:
X-153592524-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592524A>G , CM000685.2:g.153592524A>G | GRCh38 |
| NC_000023.10:g.152857982A>G , CM000685.1:g.152857982A>G | GRCh37 |
| NC_000023.9:g.152511176A>G | NCBI36 |
| NG_008393.2:g.11654T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.639T>C MANE Select | ENSP00000461135.1:p.Ala213= | |
| ENST00000429336.5:c.193+2023T>C | ||
| ENST00000440428.5:c.639T>C | ENSP00000402949.2:p.Ala213= | |
| ENST00000576892.7:c.639T>C | ENSP00000461135.1:p.Ala213= | |
| ENST00000614850.1:c.277+3480T>C | ||
| ENST00000614851.4:c.460T>C | ||
| ENST00000620088.4:c.*515T>C | ENSP00000484108.1:n.*515T>C | |
| ENST00000621629.4:c.*515T>C | ENSP00000478747.1:n.*515T>C | |
| NM_001130997.2:c.639T>C | NP_001124469.1:p.Ala213= | |
| NM_152274.4:c.639T>C | NP_689487.2:p.Ala213= | |
| XM_005277920.3:c.609T>C | XP_005277977.1:p.Ala203= | |
| XM_005277921.3:c.609T>C | XP_005277978.1:p.Ala203= | |
| XM_011531213.1:c.513T>C | XP_011529515.1:p.Ala171= | |
| XM_011531214.1:c.513T>C | XP_011529516.1:p.Ala171= | |
| XM_011531215.1:c.513T>C | XP_011529517.1:p.Ala171= | |
| XM_005277920.4:c.609T>C | XP_005277977.1:p.Ala203= | |
| XM_005277921.4:c.609T>C | XP_005277978.1:p.Ala203= | |
| XM_011531214.2:c.513T>C | XP_011529516.1:p.Ala171= | |
| XM_011531215.2:c.513T>C | XP_011529517.1:p.Ala171= | |
| XR_002958810.1:n.2544T>C | ||
| NM_152274.5:c.639T>C MANE Select | NP_689487.2:p.Ala213= | |
| NM_001130997.3:c.639T>C | NP_001124469.1:p.Ala213= |