Linked Data
ClinVar Variation Id:
216890
ClinVar RCV Id:
RCV000196772
RCV000499525
RCV000627669
RCV000990850
RCV001269900
RCV002221510
RCV001516905
RCV003927863
dbSNP Id:
rs201934623
ExAC:
X:66766162 C / T
gnomAD v2:
X-66766162-C-T
gnomAD v3:
X-67546320-C-T
gnomAD v4:
X-67546320-C-T
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67546320C>T , CM000685.2:g.67546320C>T | GRCh38 |
| NC_000023.10:g.66766162C>T , CM000685.1:g.66766162C>T | GRCh37 |
| NC_000023.9:g.66682887C>T | NCBI36 |
| NG_009014.2:g.7289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.1174C>T | ENSP00000379358.4:p.Pro392Ser | |
| ENST00000374690.9:c.1174C>T MANE Select | ENSP00000363822.3:p.Pro392Ser | |
| ENST00000396044.8:c.1174C>T | ENSP00000379359.3:p.Pro392Ser | |
| ENST00000612452.5:c.1174C>T | ENSP00000484033.2:p.Pro392Ser | |
| ENST00000374690.7:c.1174C>T | ENSP00000363822.3:p.Pro392Ser | |
| ENST00000396044.7:c.1174C>T | ENSP00000379359.3:p.Pro392Ser | |
| ENST00000504326.5:c.1174C>T | ENSP00000421155.1:p.Pro392Ser | |
| ENST00000513847.5:n.1501C>T | ||
| ENST00000514029.5:c.1174C>T | ENSP00000425199.1:p.Pro392Ser | |
| ENST00000612010.4:c.1174C>T | ENSP00000482407.1:p.Pro392Ser | |
| ENST00000612452.4:c.604C>T | ENSP00000484033.1:p.Pro202Ser | |
| ENST00000613054.2:c.1174C>T | ENSP00000479013.1:p.Pro392Ser | |
| NM_000044.3:c.1174C>T | NP_000035.2:p.Pro392Ser | |
| NM_000044.4:c.1174C>T | NP_000035.2:p.Pro392Ser | |
| NM_001011645.3:c.-610C>T | NP_001011645.1:n.-610C>T | |
| NM_001348061.1:c.1174C>T | NP_001334990.1:p.Pro392Ser | |
| NM_001348063.1:c.1174C>T | NP_001334992.1:p.Pro392Ser | |
| NM_001348064.1:c.1174C>T | NP_001334993.1:p.Pro392Ser | |
| NM_000044.6:c.1174C>T MANE Select | NP_000035.2:p.Pro392Ser |