Linked Data
ClinVar Variation Id:
593912
ClinVar RCV Id:
RCV000729083
dbSNP Id:
rs758802517
gnomAD v4:
6-24290940-C-T
MyVariant Identifiers:
chr6:g.24291168C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290940C>T , CM000668.2:g.24290940C>T | GRCh38 |
| NC_000006.11:g.24291168C>T , CM000668.1:g.24291168C>T | GRCh37 |
| NC_000006.10:g.24399147C>T | NCBI36 |
| NG_012829.1:g.72113G>A | |
| NG_012829.2:g.97353G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.696G>A MANE Select | ENSP00000367715.3:p.Arg232= | |
| ENST00000378454.7:c.696G>A | ENSP00000367715.3:p.Arg232= | |
| NM_001195610.1:c.696G>A | NP_001182539.1:p.Arg232= | |
| NM_016356.4:c.696G>A | NP_057440.2:p.Arg232= | |
| NM_016356.5:c.696G>A MANE Select | NP_057440.2:p.Arg232= | |
| NM_001195610.2:c.696G>A | NP_001182539.1:p.Arg232= |