Linked Data
dbSNP Id:
rs12459996
gnomAD v2:
19-41756906-G-T
gnomAD v3:
19-41251001-G-T
gnomAD v4:
19-41251001-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41251001G>T , CM000681.2:g.41251001G>T | GRCh38 |
| NC_000019.9:g.41756906G>T , CM000681.1:g.41756906G>T | GRCh37 |
| NC_000019.8:g.46448746G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301178.9:c.1712-1350G>T MANE Select | ENSP00000301178.3:n.1712-1350G>T | |
| ENST00000301178.8:c.1712-1350G>T | ENSP00000301178.3:n.1712-1350G>T | |
| ENST00000359092.7:c.1685-1350G>T | ENSP00000351995.2:n.1685-1350G>T | |
| ENST00000593513.1:c.908-1350G>T | ENSP00000471497.1:n.908-1350G>T | |
| NM_001278599.1:c.908-1350G>T | NP_001265528.1:n.908-1350G>T | |
| NM_001699.5:c.1685-1350G>T | NP_001690.2:n.1685-1350G>T | |
| NM_021913.4:c.1712-1350G>T | NP_068713.2:n.1712-1350G>T | |
| NM_021913.5:c.1712-1350G>T MANE Select | NP_068713.2:n.1712-1350G>T | |
| NM_001699.6:c.1685-1350G>T | NP_001690.2:n.1685-1350G>T | |
| NM_001278599.2:c.908-1350G>T | NP_001265528.1:n.908-1350G>T |