Linked Data
dbSNP Id:
rs1064725
gnomAD v2:
19-45422561-T-G
gnomAD v3:
19-44919304-T-G
gnomAD v4:
19-44919304-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44919304T>G , CM000681.2:g.44919304T>G | GRCh38 |
| NC_000019.9:g.45422561T>G , CM000681.1:g.45422561T>G | GRCh37 |
| NC_000019.8:g.50114401T>G | NCBI36 |
| NG_012859.1:g.9641T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592535.6:c.*74T>G MANE Select | ENSP00000468276.2:n.*74T>G | |
| ENST00000586638.5:c.*81T>G | ENSP00000466146.1:n.*81T>G | |
| ENST00000588750.5:c.*74T>G | ENSP00000465356.1:n.*74T>G | |
| ENST00000588802.5:c.*74T>G | ENSP00000468029.1:n.*74T>G | |
| ENST00000589781.1:c.*100T>G | ENSP00000467504.1:n.*100T>G | |
| ENST00000590334.5:c.*195T>G | ENSP00000465190.1:n.*195T>G | |
| ENST00000592176.1:c.*326T>G | ENSP00000466227.1:n.*326T>G | |
| ENST00000592885.5:c.*81T>G | ENSP00000467368.1:n.*81T>G | |
| NM_001645.3:c.*74T>G | NP_001636.1:n.*74T>G | |
| XM_005258855.2:c.*74T>G | XP_005258912.1:n.*74T>G | |
| NM_001321065.1:c.*74T>G | NP_001307994.1:n.*74T>G | |
| NM_001321066.1:c.*74T>G | NP_001307995.1:n.*74T>G | |
| NM_001645.4:c.*74T>G | NP_001636.1:n.*74T>G | |
| NM_001321065.2:c.*74T>G | NP_001307994.1:n.*74T>G | |
| NM_001321066.2:c.*74T>G | NP_001307995.1:n.*74T>G | |
| NM_001645.5:c.*74T>G MANE Select | NP_001636.1:n.*74T>G | |
| NM_001379687.1:c.*81T>G | NP_001366616.1:n.*81T>G |