Linked Data
ClinVar Variation Id:
2233396
ClinVar RCV Id:
RCV002713106
dbSNP Id:
rs1482342165
gnomAD v4:
12-53307553-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307553G>C , CM000674.2:g.53307553G>C | GRCh38 |
| NC_000012.11:g.53701337G>C , CM000674.1:g.53701337G>C | GRCh37 |
| NC_000012.10:g.51987604G>C | NCBI36 |
| NG_016775.1:g.19076C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1577C>G MANE Select | ENSP00000209873.4:p.Ala526Gly | |
| ENST00000546562.6:n.2641C>G | ||
| ENST00000547238.6:n.2213C>G | ||
| ENST00000547520.6:n.1693C>G | ||
| ENST00000547757.2:c.*495C>G | ENSP00000448020.2:n.*495C>G | |
| ENST00000548931.6:c.1012C>G | ENSP00000457518.1:p.Pro338Ala | |
| ENST00000549450.6:n.1511C>G | ||
| ENST00000672797.1:n.2066C>G | ||
| ENST00000209873.8:c.1577C>G | ENSP00000209873.4:p.Ala526Gly | |
| ENST00000394384.7:c.1478C>G | ENSP00000377908.3:p.Ala493Gly | |
| ENST00000548931.5:c.1012C>G | ENSP00000457518.1:p.Pro338Ala | |
| ENST00000550286.5:c.1205C>G | ENSP00000446885.1:p.Ala402Gly | |
| ENST00000552876.5:n.1920C>G | ||
| NM_001173466.1:c.1478C>G | NP_001166937.1:p.Ala493Gly | |
| NM_015665.5:c.1577C>G | NP_056480.1:p.Ala526Gly | |
| XM_006719617.2:c.1592C>G | XP_006719680.1:p.Ala531Gly | |
| XM_011538777.1:c.1634C>G | XP_011537079.1:p.Ala545Gly | |
| XM_011538778.1:c.1619C>G | XP_011537080.1:p.Ala540Gly | |
| XM_011538779.1:c.1535C>G | XP_011537081.1:p.Ala512Gly | |
| XM_011538780.1:c.1520C>G | XP_011537082.1:p.Ala507Gly | |
| XM_011538781.1:c.968C>G | XP_011537083.1:p.Ala323Gly | |
| XM_011538778.2:c.1619C>G | XP_011537080.1:p.Ala540Gly | |
| XM_011538780.2:c.1520C>G | XP_011537082.1:p.Ala507Gly | |
| XR_001748875.2:n.1634C>G | ||
| NM_015665.6:c.1577C>G MANE Select | NP_056480.1:p.Ala526Gly | |
| NM_001173466.2:c.1478C>G | NP_001166937.1:p.Ala493Gly |