Linked Data
ClinVar Variation Id:
1158264
ClinVar RCV Id:
RCV001501608
dbSNP Id:
rs765784168
ExAC:
17:80037034 G / A
gnomAD v2:
17-80037034-G-A
gnomAD v4:
17-82079158-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82079158G>A , CM000679.2:g.82079158G>A | GRCh38 |
| NC_000017.10:g.80037034G>A , CM000679.1:g.80037034G>A | GRCh37 |
| NC_000017.9:g.77630323G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306749.4:c.7521C>T MANE Select | ENSP00000304592.2:p.Ser2507= | |
| ENST00000306749.3:c.7521C>T | ENSP00000304592.2:p.Ser2507= | |
| ENST00000578424.2:n.800C>T | ||
| ENST00000584610.2:n.696C>T | ||
| ENST00000634990.1:c.7515C>T | ENSP00000488964.1:p.Ser2505= | |
| NM_004104.4:c.7521C>T | NP_004095.4:p.Ser2507= | |
| XM_011523538.1:c.7521C>T | XP_011521840.1:p.Ser2507= | |
| XM_011523538.2:c.7521C>T | XP_011521840.1:p.Ser2507= | |
| NM_004104.5:c.7521C>T MANE Select | NP_004095.4:p.Ser2507= |