Linked Data
ClinVar Variation Id:
21329
ClinVar RCV Id:
RCV000020494
dbSNP Id:
rs113993980
ExAC:
14:51381466 G / A
gnomAD v2:
14-51381466-G-A
gnomAD v3:
14-50914748-G-A
gnomAD v4:
14-50914748-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50914748G>A , CM000676.2:g.50914748G>A | GRCh38 |
| NC_000014.8:g.51381466G>A , CM000676.1:g.51381466G>A | GRCh37 |
| NC_000014.7:g.50451216G>A | NCBI36 |
| NG_012796.1:g.34783C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.1471C>T MANE Select | ENSP00000216392.7:p.Arg491Cys | |
| ENST00000216392.7:c.1471C>T | ENSP00000216392.7:p.Arg491Cys | |
| ENST00000532462.5:c.1471C>T | ENSP00000431657.1:p.Arg491Cys | |
| ENST00000544180.6:c.1369C>T | ENSP00000443787.1:p.Arg457Cys | |
| NM_001163940.1:c.1369C>T | NP_001157412.1:p.Arg457Cys | |
| NM_002863.4:c.1471C>T | NP_002854.3:p.Arg491Cys | |
| NM_002863.5:c.1471C>T MANE Select | NP_002854.3:p.Arg491Cys | |
| NM_001163940.2:c.1369C>T | NP_001157412.1:p.Arg457Cys |