Linked Data
ClinVar Variation Id:
454849
ClinVar RCV Id:
RCV000555677
dbSNP Id:
rs147811057
ExAC:
7:796419 T / C
gnomAD v2:
7-796419-T-C
gnomAD v4:
7-756782-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.756782T>C , CM000669.2:g.756782T>C | GRCh38 |
| NC_000007.13:g.796419T>C , CM000669.1:g.796419T>C | GRCh37 |
| NC_000007.12:g.762945T>C | NCBI36 |
| NG_033137.1:g.35082T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.1258T>C MANE Select | ENSP00000297440.6:p.Cys420Arg | |
| ENST00000297440.10:c.1258T>C | ENSP00000297440.6:p.Cys420Arg | |
| ENST00000437419.5:c.575T>C | ||
| ENST00000440747.5:c.662T>C | ||
| NM_017802.3:c.1258T>C | NP_060272.3:p.Cys420Arg | |
| NR_075098.1:n.1216T>C | ||
| XM_024446813.1:c.1258T>C | XP_024302581.1:p.Cys420Arg | |
| XM_024446814.1:c.652T>C | XP_024302582.1:p.Cys218Arg | |
| NM_017802.4:c.1258T>C MANE Select | NP_060272.3:p.Cys420Arg | |
| NR_075098.2:n.1218T>C |