Linked Data
ClinVar Variation Id:
2522357
ClinVar RCV Id:
RCV003260464
dbSNP Id:
rs1382576882
gnomAD v2:
6-24302243-G-C
gnomAD v3:
6-24302015-G-C
gnomAD v4:
6-24302015-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302015G>C , CM000668.2:g.24302015G>C | GRCh38 |
| NC_000006.11:g.24302243G>C , CM000668.1:g.24302243G>C | GRCh37 |
| NC_000006.10:g.24410222G>C | NCBI36 |
| NG_012829.1:g.61038C>G | |
| NG_012829.2:g.86278C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.378C>G MANE Select | ENSP00000367715.3:p.Asn126Lys | |
| ENST00000378454.7:c.378C>G | ENSP00000367715.3:p.Asn126Lys | |
| NM_001195610.1:c.378C>G | NP_001182539.1:p.Asn126Lys | |
| NM_016356.4:c.378C>G | NP_057440.2:p.Asn126Lys | |
| NM_016356.5:c.378C>G MANE Select | NP_057440.2:p.Asn126Lys | |
| NM_001195610.2:c.378C>G | NP_001182539.1:p.Asn126Lys |