Linked Data
dbSNP Id:
rs11595238
gnomAD v2:
10-101930409-A-G
gnomAD v3:
10-100170652-A-G
gnomAD v4:
10-100170652-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100170652A>G , CM000672.2:g.100170652A>G | GRCh38 |
| NC_000010.10:g.101930409A>G , CM000672.1:g.101930409A>G | GRCh37 |
| NC_000010.9:g.101920399A>G | NCBI36 |
| NG_052910.1:g.20406T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000421367.7:c.505-3246T>C MANE Select | ENSP00000410964.2:n.505-3246T>C | |
| ENST00000370408.2:c.505-3246T>C | ENSP00000359436.2:n.505-3246T>C | |
| ENST00000407654.7:c.505-3246T>C | ENSP00000384900.3:n.505-3246T>C | |
| ENST00000421367.6:c.505-3246T>C | ENSP00000410964.2:n.505-3246T>C | |
| NM_001100626.1:c.505-3246T>C | NP_001094096.1:n.505-3246T>C | |
| NM_006459.3:c.505-3246T>C | NP_006450.2:n.505-3246T>C | |
| XM_005269442.2:c.505-3246T>C | XP_005269499.1:n.505-3246T>C | |
| XM_011539170.1:c.253-3246T>C | XP_011537472.1:n.253-3246T>C | |
| XM_011539171.1:c.505-3246T>C | XP_011537473.1:n.505-3246T>C | |
| NM_001347856.1:c.253-3246T>C | NP_001334785.1:n.253-3246T>C | |
| NM_001347857.1:c.505-3246T>C | NP_001334786.1:n.505-3246T>C | |
| NM_001347858.1:c.25-3246T>C | NP_001334787.1:n.25-3246T>C | |
| NM_001347859.1:c.505-3246T>C | NP_001334788.1:n.505-3246T>C | |
| NM_001347860.1:c.505-3246T>C | NP_001334789.1:n.505-3246T>C | |
| NM_001347861.1:c.505-3246T>C | NP_001334790.1:n.505-3246T>C | |
| NR_144755.1:n.530-3246T>C | ||
| NR_144756.1:n.611+3556T>C | ||
| NR_144757.1:n.503-3246T>C | ||
| NR_144758.1:n.612-3246T>C | ||
| NR_144759.1:n.590-3246T>C | ||
| NR_144760.1:n.694+3556T>C | ||
| NM_006459.4:c.505-3246T>C MANE Select | NP_006450.2:n.505-3246T>C | |
| NM_001100626.2:c.505-3246T>C | NP_001094096.1:n.505-3246T>C | |
| NM_001347856.2:c.253-3246T>C | NP_001334785.1:n.253-3246T>C | |
| NM_001347857.2:c.505-3246T>C | NP_001334786.1:n.505-3246T>C | |
| NM_001347858.2:c.25-3246T>C | NP_001334787.1:n.25-3246T>C | |
| NM_001347859.2:c.505-3246T>C | NP_001334788.1:n.505-3246T>C | |
| NM_001347860.2:c.505-3246T>C | NP_001334789.1:n.505-3246T>C | |
| NM_001347861.2:c.505-3246T>C | NP_001334790.1:n.505-3246T>C | |
| NR_144755.2:n.502-3246T>C | ||
| NR_144756.2:n.583+3556T>C | ||
| NR_144757.2:n.475-3246T>C | ||
| NR_144758.2:n.584-3246T>C | ||
| NR_144759.2:n.642-3246T>C | ||
| NR_144760.2:n.746+3556T>C |