Linked Data
dbSNP Id:
rs778896429
ExAC:
17:61555348 G / A
gnomAD v2:
17-61555348-G-A
gnomAD v3:
17-63477987-G-A
gnomAD v4:
17-63477987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477987G>A , CM000679.2:g.63477987G>A | GRCh38 |
| NC_000017.10:g.61555348G>A , CM000679.1:g.61555348G>A | GRCh37 |
| NC_000017.9:g.58909080G>A | NCBI36 |
| NG_011648.1:g.5915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.306G>A MANE Select | ENSP00000290866.4:p.Lys102= | |
| ENST00000290866.9:c.306G>A | ENSP00000290866.4:p.Lys102= | |
| ENST00000428043.5:c.306G>A | ENSP00000397593.2:p.Lys102= | |
| ENST00000579462.1:n.331G>A | ||
| ENST00000580318.1:n.495G>A | ||
| ENST00000582627.1:c.306G>A | ENSP00000462280.1:p.Lys102= | |
| ENST00000582678.5:c.306G>A | ENSP00000462995.1:p.Lys102= | |
| ENST00000583336.5:n.340G>A | ||
| ENST00000584529.5:n.340G>A | ||
| NM_000789.3:c.306G>A | NP_000780.1:p.Lys102= | |
| XM_005257110.1:c.-150G>A | XP_005257167.1:n.-150G>A | |
| NM_000789.4:c.306G>A MANE Select | NP_000780.1:p.Lys102= | |
| NM_001382700.1:c.71G>A | NP_001369629.1:p.Arg24Lys | |
| NM_001382701.1:c.-309G>A | NP_001369630.1:n.-309G>A |