Linked Data
dbSNP Id:
rs1200736633
gnomAD v2:
17-15931657-T-G
gnomAD v3:
17-16028343-T-G
gnomAD v4:
17-16028343-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16028343T>G , CM000679.2:g.16028343T>G | GRCh38 |
| NC_000017.10:g.15931657T>G , CM000679.1:g.15931657T>G | GRCh37 |
| NC_000017.9:g.15872382T>G | NCBI36 |
| NG_029806.1:g.33964T>G | |
| NG_047111.1:g.193404A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*821T>G MANE Select | ENSP00000261647.5:n.*821T>G | |
| ENST00000261647.9:c.*821T>G | ENSP00000261647.5:n.*821T>G | |
| ENST00000465567.1:n.2358T>G | ||
| ENST00000470649.1:c.247+1641T>G | ENSP00000465627.1:n.247+1641T>G | |
| ENST00000475723.5:c.2148T>G | ||
| ENST00000481107.1:n.2632T>G | ||
| NM_001271420.1:c.*821T>G | NP_001258349.1:n.*821T>G | |
| NM_017775.3:c.*821T>G | NP_060245.3:n.*821T>G | |
| XM_017024801.2:c.994+1641T>G | XP_016880290.2:n.994+1641T>G | |
| XM_017024802.2:c.994+1641T>G | XP_016880291.2:n.994+1641T>G | |
| NM_017775.4:c.*821T>G MANE Select | NP_060245.3:n.*821T>G | |
| NM_001271420.2:c.*821T>G | NP_001258349.1:n.*821T>G |