Linked Data
dbSNP Id:
rs755713504
ExAC:
17:12896189 C / T
gnomAD v2:
17-12896189-C-T
gnomAD v4:
17-12992872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992872C>T , CM000679.2:g.12992872C>T | GRCh38 |
| NC_000017.10:g.12896189C>T , CM000679.1:g.12896189C>T | GRCh37 |
| NC_000017.9:g.12836914C>T | NCBI36 |
| NG_015808.1:g.30193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2427G>A MANE Select | ENSP00000337445.4:p.Gln809= | |
| ENST00000338034.8:c.2427G>A | ENSP00000337445.4:p.Gln809= | |
| ENST00000395962.6:c.2370G>A | ENSP00000379291.1:p.Gln790= | |
| ENST00000426905.7:c.2307G>A | ENSP00000405223.3:p.Gln769= | |
| ENST00000465825.5:n.2314G>A | ||
| ENST00000480891.5:n.2256G>A | ||
| ENST00000484122.5:n.3257G>A | ||
| ENST00000487229.6:n.1973G>A | ||
| ENST00000584650.5:c.1826G>A | ||
| NM_001165962.1:c.2307G>A | NP_001159434.1:p.Gln769= | |
| NM_018127.6:c.2427G>A | NP_060597.4:p.Gln809= | |
| NM_173717.1:c.2424G>A | NP_776065.1:p.Gln808= | |
| XM_024450850.1:c.2586G>A | XP_024306618.1:p.Gln862= | |
| XM_024450851.1:c.2508G>A | XP_024306619.1:p.Gln836= | |
| XM_024450852.1:c.2505G>A | XP_024306620.1:p.Gln835= | |
| XM_024450853.1:c.2502G>A | XP_024306621.1:p.Gln834= | |
| XM_024450854.1:c.2466G>A | XP_024306622.1:p.Gln822= | |
| XM_024450855.1:c.2385G>A | XP_024306623.1:p.Gln795= | |
| XM_024450856.1:c.2304G>A | XP_024306624.1:p.Gln768= | |
| XM_024450857.1:c.2304G>A | XP_024306625.1:p.Gln768= | |
| XM_024450858.1:c.2223G>A | XP_024306626.1:p.Gln741= | |
| XM_024450859.1:c.2220G>A | XP_024306627.1:p.Gln740= | |
| XM_024450860.1:c.2145G>A | XP_024306628.1:p.Gln715= | |
| XM_024450861.1:c.2145G>A | XP_024306629.1:p.Gln715= | |
| XM_024450862.1:c.2142G>A | XP_024306630.1:p.Gln714= | |
| NM_018127.7:c.2427G>A MANE Select | NP_060597.4:p.Gln809= | |
| NM_001165962.2:c.2307G>A | NP_001159434.1:p.Gln769= | |
| NM_173717.2:c.2424G>A | NP_776065.1:p.Gln808= |