Linked Data
ClinVar Variation Id:
2920835
ClinVar RCV Id:
RCV003736402
dbSNP Id:
rs782458440
ExAC:
X:154221304 G / A
gnomAD v2:
X-154221304-G-A
gnomAD v4:
X-154993029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993029G>A , CM000685.2:g.154993029G>A | GRCh38 |
| NC_000023.10:g.154221304G>A , CM000685.1:g.154221304G>A | GRCh37 |
| NC_000023.9:g.153874498G>A | NCBI36 |
| NG_011403.1:g.34695C>T | |
| NG_011403.2:g.34695C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.508C>T MANE Select | ENSP00000353393.4:p.Pro170Ser | |
| ENST00000647125.1:c.*294C>T | ENSP00000496062.1:n.*294C>T | |
| ENST00000360256.8:c.508C>T | ENSP00000353393.4:p.Pro170Ser | |
| ENST00000423959.5:c.403C>T | ENSP00000409446.1:p.Pro135Ser | |
| ENST00000453950.1:c.490C>T | ENSP00000389153.1:p.Pro164Ser | |
| NM_000132.3:c.508C>T | NP_000123.1:p.Pro170Ser | |
| XM_011531126.1:c.403C>T | XP_011529428.1:p.Pro135Ser | |
| NM_000132.4:c.508C>T MANE Select | NP_000123.1:p.Pro170Ser |