Linked Data
dbSNP Id:
rs199673148
ExAC:
9:139391675 C / A
gnomAD v2:
9-139391675-C-A
gnomAD v3:
9-136497223-C-A
gnomAD v4:
9-136497223-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497223C>A , CM000671.2:g.136497223C>A | GRCh38 |
| NC_000009.11:g.139391675C>A , CM000671.1:g.139391675C>A | GRCh37 |
| NC_000009.10:g.138511496C>A | NCBI36 |
| NG_007458.1:g.53564G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6516G>T MANE Select | ENSP00000498587.1:p.Glu2172Asp | |
| ENST00000679595.1:c.*1556G>T | ENSP00000506241.1:n.*1556G>T | |
| ENST00000679969.1:n.3112G>T | ||
| ENST00000680003.1:n.2848G>T | ||
| ENST00000680133.1:c.6402G>T | ENSP00000505319.1:p.Glu2134Asp | |
| ENST00000680218.1:c.6396G>T | ENSP00000505339.1:p.Glu2132Asp | |
| ENST00000680668.1:c.6402G>T | ENSP00000506336.1:p.Glu2134Asp | |
| ENST00000680778.1:c.4113G>T | ENSP00000506033.1:p.Glu1371Asp | |
| ENST00000680924.1:c.*3916G>T | ENSP00000506031.1:n.*3916G>T | |
| ENST00000681135.1:c.*4125G>T | ENSP00000506636.1:n.*4125G>T | |
| ENST00000681298.1:n.4621G>T | ||
| ENST00000681454.1:c.*5752G>T | ENSP00000505763.1:n.*5752G>T | |
| ENST00000277541.6:c.6516G>T | ENSP00000277541.6:p.Glu2172Asp | |
| NM_017617.3:c.6516G>T | NP_060087.3:p.Glu2172Asp | |
| XM_011518717.1:c.5817G>T | XP_011517019.1:p.Glu1939Asp | |
| NM_017617.5:c.6516G>T MANE Select | NP_060087.3:p.Glu2172Asp | |
| XM_011518717.2:c.5793G>T | XP_011517019.2:p.Glu1931Asp |