Linked Data
ClinVar Variation Id:
397556
ClinVar RCV Id:
RCV000449605
dbSNP Id:
rs751953529
ExAC:
12:102179790 C / T
gnomAD v2:
12-102179790-C-T
gnomAD v4:
12-101786012-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786012C>T , CM000674.2:g.101786012C>T | GRCh38 |
| NC_000012.11:g.102179790C>T , CM000674.1:g.102179790C>T | GRCh37 |
| NC_000012.10:g.100703921C>T | NCBI36 |
| NG_021243.1:g.49856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.571G>A MANE Select | ENSP00000299314.7:p.Val191Ile | |
| ENST00000299314.11:c.571G>A | ENSP00000299314.7:p.Val191Ile | |
| ENST00000549940.5:c.571G>A | ENSP00000449150.1:p.Val191Ile | |
| ENST00000550352.1:n.365G>A | ||
| ENST00000552681.1:c.205G>A | ENSP00000449217.1:p.Val69Ile | |
| NM_024312.4:c.571G>A | NP_077288.2:p.Val191Ile | |
| XM_006719593.2:c.571G>A | XP_006719656.1:p.Val191Ile | |
| XM_011538731.1:c.490G>A | XP_011537033.1:p.Val164Ile | |
| XM_006719593.3:c.571G>A | XP_006719656.1:p.Val191Ile | |
| XM_011538731.2:c.490G>A | XP_011537033.1:p.Val164Ile | |
| XM_017019961.1:c.355G>A | XP_016875450.1:p.Val119Ile | |
| XM_017019962.2:c.-780G>A | XP_016875451.1:n.-780G>A | |
| NM_024312.5:c.571G>A MANE Select | NP_077288.2:p.Val191Ile |