Linked Data
dbSNP Id:
rs772441926
ExAC:
X:22112137 G / C
gnomAD v2:
X-22112137-G-C
gnomAD v4:
X-22094019-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22094019G>C , CM000685.2:g.22094019G>C | GRCh38 |
| NC_000023.10:g.22112137G>C , CM000685.1:g.22112137G>C | GRCh37 |
| NC_000023.9:g.22022058G>C | NCBI36 |
| NG_007563.2:g.66217G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.1195G>C | ||
| ENST00000684143.1:c.766G>C | ENSP00000508264.1:p.Ala256Pro | |
| ENST00000684745.1:n.443G>C | ||
| ENST00000379374.5:c.769G>C MANE Select | ENSP00000368682.4:p.Ala257Pro | |
| ENST00000379374.4:c.769G>C | ENSP00000368682.4:p.Ala257Pro | |
| ENST00000475778.1:n.42G>C | ||
| NM_000444.5:c.769G>C | NP_000435.3:p.Ala257Pro | |
| NM_001282754.1:c.769G>C | NP_001269683.1:p.Ala257Pro | |
| XM_011545533.1:c.13G>C | XP_011543835.1:p.Ala5Pro | |
| XM_011545534.1:c.13G>C | XP_011543836.1:p.Ala5Pro | |
| XM_011545535.1:c.769G>C | XP_011543837.1:p.Ala257Pro | |
| XM_017029579.1:c.13G>C | XP_016885068.1:p.Ala5Pro | |
| XM_024452390.1:c.478G>C | XP_024308158.1:p.Ala160Pro | |
| XR_001755695.1:n.1448G>C | ||
| NM_000444.6:c.769G>C MANE Select | NP_000435.3:p.Ala257Pro | |
| NM_001282754.2:c.769G>C | NP_001269683.1:p.Ala257Pro |