Linked Data
ClinVar Variation Id:
708190
ClinVar RCV Id:
RCV000879403
dbSNP Id:
rs201892132
ExAC:
X:148582537 C / T
gnomAD v2:
X-148582537-C-T
gnomAD v3:
X-149501006-C-T
gnomAD v4:
X-149501006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149501006C>T , CM000685.2:g.149501006C>T | GRCh38 |
| NC_000023.10:g.148582537C>T , CM000685.1:g.148582537C>T | GRCh37 |
| NC_000023.9:g.148390442C>T | NCBI36 |
| NG_011900.3:g.9329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.450G>A MANE Select | ENSP00000339801.6:p.Pro150= | |
| ENST00000651111.1:c.-184G>A | ENSP00000498395.1:n.-184G>A | |
| ENST00000340855.10:c.450G>A | ENSP00000339801.6:p.Pro150= | |
| ENST00000370441.8:c.450G>A | ENSP00000359470.4:p.Pro150= | |
| ENST00000422081.6:c.-184G>A | ENSP00000477056.1:n.-184G>A | |
| ENST00000441880.1:n.114-13908G>A | ||
| ENST00000464251.5:c.376G>A | ENSP00000428980.1:n.376G>A | |
| ENST00000466323.5:c.450G>A | ENSP00000418264.1:p.Pro150= | |
| ENST00000490775.5:n.109G>A | ||
| ENST00000523759.5:n.564G>A | ||
| NM_000202.6:c.450G>A | NP_000193.1:p.Pro150= | |
| NM_001166550.2:c.180G>A | NP_001160022.1:p.Pro60= | |
| NM_006123.4:c.450G>A | NP_006114.1:p.Pro150= | |
| NR_104128.1:n.667G>A | ||
| NM_000202.7:c.450G>A | NP_000193.1:p.Pro150= | |
| NM_001166550.3:c.180G>A | NP_001160022.1:p.Pro60= | |
| NM_000202.8:c.450G>A MANE Select | NP_000193.1:p.Pro150= | |
| NM_001166550.4:c.180G>A | NP_001160022.1:p.Pro60= | |
| NM_006123.5:c.450G>A | NP_006114.1:p.Pro150= | |
| NR_104128.2:n.619G>A |