Linked Data
ClinVar Variation Id:
1049289
ClinVar RCV Id:
RCV001355226
dbSNP Id:
rs201394441
ExAC:
X:22065206 C / G
gnomAD v2:
X-22065206-C-G
gnomAD v4:
X-22047088-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22047088C>G , CM000685.2:g.22047088C>G | GRCh38 |
| NC_000023.10:g.22065206C>G , CM000685.1:g.22065206C>G | GRCh37 |
| NC_000023.9:g.21975127C>G | NCBI36 |
| NG_007563.2:g.19286C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475778.2:n.652C>G | ||
| ENST00000683214.1:n.544+13965C>G | ||
| ENST00000684143.1:c.226C>G | ENSP00000508264.1:p.Pro76Ala | |
| ENST00000379374.5:c.226C>G MANE Select | ENSP00000368682.4:p.Pro76Ala | |
| ENST00000379374.4:c.226C>G | ENSP00000368682.4:p.Pro76Ala | |
| NM_000444.5:c.226C>G | NP_000435.3:p.Pro76Ala | |
| NM_001282754.1:c.226C>G | NP_001269683.1:p.Pro76Ala | |
| XM_011545535.1:c.226C>G | XP_011543837.1:p.Pro76Ala | |
| XM_024452390.1:c.-66C>G | XP_024308158.1:n.-66C>G | |
| XR_001755695.1:n.905C>G | ||
| NM_000444.6:c.226C>G MANE Select | NP_000435.3:p.Pro76Ala | |
| NM_001282754.2:c.226C>G | NP_001269683.1:p.Pro76Ala |