Linked Data
ClinVar Variation Id:
794036
ClinVar RCV Id:
RCV000977259
dbSNP Id:
rs761133347
ExAC:
8:94935298 C / T
gnomAD v2:
8-94935298-C-T
gnomAD v3:
8-93923070-C-T
gnomAD v4:
8-93923070-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923070C>T , CM000670.2:g.93923070C>T | GRCh38 |
| NC_000008.10:g.94935298C>T , CM000670.1:g.94935298C>T | GRCh37 |
| NC_000008.9:g.95004474C>T | NCBI36 |
| NG_012233.1:g.11137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.1011C>T MANE Select | ENSP00000297598.4:p.Val337= | |
| ENST00000297598.4:c.1011C>T | ENSP00000297598.4:p.Val337= | |
| ENST00000396200.3:c.1086C>T | ENSP00000379503.3:p.Val362= | |
| ENST00000517764.1:c.1011C>T | ENSP00000430380.1:p.Val337= | |
| ENST00000520728.5:c.1011C>T | ENSP00000428317.1:p.Val337= | |
| NM_001161779.1:c.1086C>T | NP_001155251.1:p.Val362= | |
| NM_001161780.1:c.1086C>T | NP_001155252.1:p.Val362= | |
| NM_001161781.1:c.1011C>T | NP_001155253.1:p.Val337= | |
| NM_018444.3:c.1011C>T | NP_060914.2:p.Val337= | |
| XM_011517135.1:c.1065C>T | XP_011515437.1:p.Val355= | |
| XM_011517136.1:c.1011C>T | XP_011515438.1:p.Val337= | |
| XM_011517137.1:c.1011C>T | XP_011515439.1:p.Val337= | |
| XM_011517135.2:c.1065C>T | XP_011515437.1:p.Val355= | |
| XM_011517136.2:c.1011C>T | XP_011515438.1:p.Val337= | |
| XM_017013588.1:c.1173C>T | XP_016869077.1:p.Val391= | |
| NM_018444.4:c.1011C>T MANE Select | NP_060914.2:p.Val337= | |
| NM_001161780.2:c.1086C>T | NP_001155252.1:p.Val362= | |
| NM_001161781.2:c.1011C>T | NP_001155253.1:p.Val337= | |
| NM_001161779.2:c.1086C>T | NP_001155251.1:p.Val362= |