Linked Data
ClinVar Variation Id:
1437582
ClinVar RCV Id:
RCV001948766
dbSNP Id:
rs1164353101
gnomAD v4:
9-104806279-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104806279C>G , CM000671.2:g.104806279C>G | GRCh38 |
| NC_000009.11:g.107568560C>G , CM000671.1:g.107568560C>G | GRCh37 |
| NC_000009.10:g.106608381C>G | NCBI36 |
| NG_007981.1:g.126877G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.4426G>C MANE Select | ENSP00000363868.3:p.Val1476Leu | |
| ENST00000678995.1:c.4432G>C | ENSP00000504612.1:p.Val1478Leu | |
| ENST00000374736.7:c.4426G>C | ENSP00000363868.3:p.Val1476Leu | |
| NM_005502.3:c.4426G>C | NP_005493.2:p.Val1476Leu | |
| XM_005251773.1:c.4432G>C | XP_005251830.1:p.Val1478Leu | |
| XM_005251776.1:c.4252G>C | XP_005251833.1:p.Val1418Leu | |
| XM_011518339.1:c.4507G>C | XP_011516641.1:p.Val1503Leu | |
| XM_011518340.1:c.4507G>C | XP_011516642.1:p.Val1503Leu | |
| XM_011518341.1:c.4501G>C | XP_011516643.1:p.Val1501Leu | |
| XM_011518342.1:c.4069G>C | XP_011516644.1:p.Val1357Leu | |
| XM_011518343.1:c.4507G>C | XP_011516645.1:p.Val1503Leu | |
| XM_011518344.1:c.4507G>C | XP_011516646.1:p.Val1503Leu | |
| XM_005251773.3:c.4432G>C | XP_005251830.1:p.Val1478Leu | |
| XM_005251776.3:c.4252G>C | XP_005251833.1:p.Val1418Leu | |
| XM_011518339.3:c.4507G>C | XP_011516641.1:p.Val1503Leu | |
| XM_011518340.3:c.4507G>C | XP_011516642.1:p.Val1503Leu | |
| XM_011518341.3:c.4501G>C | XP_011516643.1:p.Val1501Leu | |
| XM_011518342.3:c.4069G>C | XP_011516644.1:p.Val1357Leu | |
| XM_011518344.2:c.4507G>C | XP_011516646.1:p.Val1503Leu | |
| XM_017014378.2:c.4507G>C | XP_016869867.1:p.Val1503Leu | |
| XM_017014379.2:c.4507G>C | XP_016869868.1:p.Val1503Leu | |
| XM_017014380.2:c.4507G>C | XP_016869869.1:p.Val1503Leu | |
| XM_017014381.2:c.4507G>C | XP_016869870.1:p.Val1503Leu | |
| XM_017014382.2:c.4369G>C | XP_016869871.1:p.Val1457Leu | |
| XR_001746223.1:n.4820G>C | ||
| NM_005502.4:c.4426G>C MANE Select | NP_005493.2:p.Val1476Leu |