Linked Data
ClinVar Variation Id:
10776
ClinVar RCV Id:
RCV000011523
dbSNP Id:
rs121918364
ExAC:
X:99917224 A / C
gnomAD v2:
X-99917224-A-C
gnomAD v3:
X-100662227-A-C
gnomAD v4:
X-100662227-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100662227A>C , CM000685.2:g.100662227A>C | GRCh38 |
| NC_000023.10:g.99917224A>C , CM000685.1:g.99917224A>C | GRCh37 |
| NC_000023.9:g.99803880A>C | NCBI36 |
| NG_021337.1:g.23062A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373004.5:c.215A>C MANE Select | ENSP00000362095.3:p.Tyr72Ser | |
| ENST00000638319.1:n.203A>C | ||
| ENST00000638458.1:c.239A>C | ENSP00000492168.1:p.Tyr80Ser | |
| ENST00000638920.1:n.218A>C | ||
| ENST00000640020.1:n.520A>C | ||
| ENST00000640889.1:c.215A>C | ENSP00000492571.1:p.Tyr72Ser | |
| ENST00000677630.1:n.149A>C | ||
| ENST00000679590.1:n.248A>C | ||
| ENST00000373004.3:c.215A>C | ENSP00000362095.3:p.Tyr72Ser | |
| NM_014467.2:c.215A>C | NP_055282.1:p.Tyr72Ser | |
| XM_005262121.2:c.215A>C | XP_005262178.1:p.Tyr72Ser | |
| NM_014467.3:c.215A>C MANE Select | NP_055282.1:p.Tyr72Ser |