Linked Data
ClinVar Variation Id:
2418524
ClinVar RCV Id:
RCV003121273
dbSNP Id:
rs753678470
ExAC:
12:58157487 G / A
gnomAD v2:
12-58157487-G-A
gnomAD v3:
12-57763704-G-A
gnomAD v4:
12-57763704-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763704G>A , CM000674.2:g.57763704G>A | GRCh38 |
| NC_000012.11:g.58157487G>A , CM000674.1:g.58157487G>A | GRCh37 |
| NC_000012.10:g.56443754G>A | NCBI36 |
| NG_007076.1:g.8490C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1401C>T | ENSP00000518840.1:p.Pro467= | |
| ENST00000713545.1:c.*325C>T | ENSP00000518841.1:n.*325C>T | |
| ENST00000228606.9:c.1320C>T MANE Select | ENSP00000228606.4:p.Pro440= | |
| ENST00000228606.8:c.1320C>T | ENSP00000228606.4:p.Pro440= | |
| ENST00000547344.5:n.1459C>T | ||
| NM_000785.3:c.1320C>T | NP_000776.1:p.Pro440= | |
| NM_000785.4:c.1320C>T MANE Select | NP_000776.1:p.Pro440= |