Linked Data
dbSNP Id:
rs2267386
gnomAD v2:
22-38832112-G-A
gnomAD v3:
22-38436107-G-A
gnomAD v4:
22-38436107-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38436107G>A , CM000684.2:g.38436107G>A | GRCh38 |
| NC_000022.10:g.38832112G>A , CM000684.1:g.38832112G>A | GRCh37 |
| NC_000022.9:g.37162058G>A | NCBI36 |
| NG_050625.1:g.24093C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303592.3:c.-39-7936C>T MANE Select | ENSP00000306497.3:n.-39-7936C>T | |
| NM_004981.1:c.-40+7864C>T | NP_004972.1:n.-40+7864C>T | |
| NM_152868.2:c.-39-7936C>T | NP_690607.1:n.-39-7936C>T | |
| XR_938251.1:n.207-196G>A | ||
| XR_001755539.1:n.939-196G>A | ||
| XR_938251.2:n.499-196G>A | ||
| NM_152868.3:c.-39-7936C>T MANE Select | NP_690607.1:n.-39-7936C>T | |
| NM_004981.2:c.-40+7864C>T | NP_004972.1:n.-40+7864C>T |