Linked Data
dbSNP Id:
rs1436904
gnomAD v2:
18-24570667-T-G
gnomAD v3:
18-26990703-T-G
gnomAD v4:
18-26990703-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26990703T>G , CM000680.2:g.26990703T>G | GRCh38 |
| NC_000018.9:g.24570667T>G , CM000680.1:g.24570667T>G | GRCh37 |
| NC_000018.8:g.22824665T>G | NCBI36 |
| NG_029856.1:g.199623A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000618847.5:c.202+33413A>C MANE Select | ENSP00000480991.1:n.202+33413A>C | |
| ENST00000284224.9:c.-16+33413A>C | ENSP00000284224.9:n.-16+33413A>C | |
| ENST00000580774.2:c.202+33413A>C | ENSP00000464655.1:n.202+33413A>C | |
| ENST00000581714.5:c.202+33413A>C | ENSP00000462852.1:n.202+33413A>C | |
| ENST00000618847.4:c.202+33413A>C | ENSP00000480991.1:n.202+33413A>C | |
| NM_001256316.1:c.202+33413A>C | NP_001243245.1:n.202+33413A>C | |
| NM_031422.5:c.202+33413A>C | NP_113610.2:n.202+33413A>C | |
| XM_006722555.2:c.202+33413A>C | XP_006722618.1:n.202+33413A>C | |
| XM_011526225.1:c.1+33413A>C | XP_011524527.1:n.1+33413A>C | |
| XM_006722555.4:c.202+33413A>C | XP_006722618.1:n.202+33413A>C | |
| XM_017026033.1:c.202+33413A>C | XP_016881522.1:n.202+33413A>C | |
| XM_017026034.1:c.-66-11951A>C | XP_016881523.1:n.-66-11951A>C | |
| NM_031422.6:c.202+33413A>C MANE Select | NP_113610.2:n.202+33413A>C | |
| NM_001256316.2:c.202+33413A>C | NP_001243245.1:n.202+33413A>C | |
| NM_001398493.1:c.202+33413A>C | NP_001385422.1:n.202+33413A>C |