Linked Data
dbSNP Id:
rs773669084
ExAC:
17:7125999 A / T
gnomAD v2:
17-7125999-A-T
gnomAD v4:
17-7222680-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222680A>T , CM000679.2:g.7222680A>T | GRCh38 |
| NC_000017.10:g.7125999A>T , CM000679.1:g.7125999A>T | GRCh37 |
| NC_000017.9:g.7066723A>T | NCBI36 |
| NG_007975.1:g.7847A>T | |
| NG_008391.2:g.2371T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.892A>T MANE Select | ENSP00000349297.5:p.Lys298Ter | |
| ENST00000322910.9:c.*847A>T | ENSP00000325395.5:n.*847A>T | |
| ENST00000350303.9:c.826A>T | ENSP00000344152.5:p.Lys276Ter | |
| ENST00000356839.9:c.892A>T | ENSP00000349297.5:p.Lys298Ter | |
| ENST00000543245.6:c.961A>T | ENSP00000438689.2:p.Lys321Ter | |
| ENST00000578824.5:n.41A>T | ||
| ENST00000581378.5:c.610A>T | ||
| ENST00000582379.1:n.276A>T | ||
| NM_000018.3:c.892A>T | NP_000009.1:p.Lys298Ter | |
| NM_001033859.2:c.826A>T | NP_001029031.1:p.Lys276Ter | |
| NM_001270447.1:c.961A>T | NP_001257376.1:p.Lys321Ter | |
| NM_001270448.1:c.664A>T | NP_001257377.1:p.Lys222Ter | |
| XM_006721516.2:c.892A>T | XP_006721579.2:p.Lys298Ter | |
| XM_011523829.1:c.892A>T | XP_011522131.1:p.Lys298Ter | |
| XM_011523830.1:c.892A>T | XP_011522132.1:p.Lys298Ter | |
| XR_934021.1:n.999A>T | ||
| XR_934022.1:n.999A>T | ||
| XR_934023.1:n.999A>T | ||
| XM_006721516.3:c.892A>T | XP_006721579.2:p.Lys298Ter | |
| XM_011523829.2:c.892A>T | XP_011522131.1:p.Lys298Ter | |
| XM_011523830.2:c.892A>T | XP_011522132.1:p.Lys298Ter | |
| XM_024450741.1:c.892A>T | XP_024306509.1:p.Lys298Ter | |
| XR_934021.2:n.951A>T | ||
| XR_934022.2:n.951A>T | ||
| XR_934023.2:n.951A>T | ||
| NM_000018.4:c.892A>T MANE Select | NP_000009.1:p.Lys298Ter | |
| NM_001033859.3:c.826A>T | NP_001029031.1:p.Lys276Ter | |
| NM_001270447.2:c.961A>T | NP_001257376.1:p.Lys321Ter | |
| NM_001270448.2:c.664A>T | NP_001257377.1:p.Lys222Ter |