Linked Data
dbSNP Id:
rs748598600
gnomAD v2:
7-83610772-G-T
gnomAD v4:
7-83981456-G-T
COSMIC:
COSM747804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83981456G>T , CM000669.2:g.83981456G>T | GRCh38 |
| NC_000007.13:g.83610772G>T , CM000669.1:g.83610772G>T | GRCh37 |
| NC_000007.12:g.83448708G>T | NCBI36 |
| NG_011489.1:g.218446C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265362.9:c.1517C>A MANE Select | ENSP00000265362.3:p.Thr506Lys | |
| ENST00000265362.8:c.1517C>A | ENSP00000265362.3:p.Thr506Lys | |
| ENST00000436949.5:c.1517C>A | ENSP00000415260.1:p.Thr506Lys | |
| NM_006080.2:c.1517C>A | NP_006071.1:p.Thr506Lys | |
| XM_005250110.2:c.1517C>A | XP_005250167.1:p.Thr506Lys | |
| XM_005250111.3:c.1517C>A | XP_005250168.1:p.Thr506Lys | |
| XM_006715839.2:c.1517C>A | XP_006715902.1:p.Thr506Lys | |
| XM_011515734.1:c.1517C>A | XP_011514036.1:p.Thr506Lys | |
| XM_011515735.1:c.1517C>A | XP_011514037.1:p.Thr506Lys | |
| XM_005250110.3:c.1517C>A | XP_005250167.1:p.Thr506Lys | |
| XM_005250111.4:c.1517C>A | XP_005250168.1:p.Thr506Lys | |
| XM_006715839.3:c.1517C>A | XP_006715902.1:p.Thr506Lys | |
| XM_011515734.3:c.1517C>A | XP_011514036.1:p.Thr506Lys | |
| XM_017011673.1:c.1517C>A | XP_016867162.1:p.Thr506Lys | |
| XM_024446633.1:c.1517C>A | XP_024302401.1:p.Thr506Lys | |
| NM_006080.3:c.1517C>A MANE Select | NP_006071.1:p.Thr506Lys |