Linked Data
dbSNP Id:
rs567706604
ExAC:
17:61566103 G / A
gnomAD v2:
17-61566103-G-A
gnomAD v4:
17-63488742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488742G>A , CM000679.2:g.63488742G>A | GRCh38 |
| NC_000017.10:g.61566103G>A , CM000679.1:g.61566103G>A | GRCh37 |
| NC_000017.9:g.58919835G>A | NCBI36 |
| NG_011648.1:g.16670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2400G>A MANE Select | ENSP00000290866.4:p.Gln800= | |
| ENST00000290863.10:c.678G>A | ENSP00000290863.6:p.Gln226= | |
| ENST00000290866.9:c.2400G>A | ENSP00000290866.4:p.Gln800= | |
| ENST00000413513.7:c.678G>A | ENSP00000392247.3:p.Gln226= | |
| ENST00000428043.5:c.2400G>A | ENSP00000397593.2:p.Gln800= | |
| ENST00000577647.2:c.678G>A | ENSP00000464149.1:p.Gln226= | |
| ENST00000578839.5:c.*470G>A | ENSP00000462110.2:n.*470G>A | |
| ENST00000579204.1:c.659G>A | ENSP00000464629.1:n.659G>A | |
| ENST00000579314.5:c.*129G>A | ENSP00000462599.1:n.*129G>A | |
| ENST00000582005.5:c.*320G>A | ENSP00000462002.1:n.*320G>A | |
| ENST00000582761.1:c.168G>A | ENSP00000462909.1:p.Gln56= | |
| ENST00000584865.5:n.346G>A | ||
| NM_000789.3:c.2400G>A | NP_000780.1:p.Gln800= | |
| NM_001178057.1:c.678G>A | NP_001171528.1:p.Gln226= | |
| NM_152830.2:c.678G>A | NP_690043.1:p.Gln226= | |
| XM_005257110.1:c.1851G>A | XP_005257167.1:p.Gln617= | |
| XM_006721737.2:c.738G>A | XP_006721800.2:p.Gln246= | |
| XM_006721737.3:c.738G>A | XP_006721800.2:p.Gln246= | |
| NM_000789.4:c.2400G>A MANE Select | NP_000780.1:p.Gln800= | |
| NM_001178057.2:c.678G>A | NP_001171528.1:p.Gln226= | |
| NM_152830.3:c.678G>A | NP_690043.1:p.Gln226= | |
| NM_001382700.1:c.1833G>A | NP_001369629.1:p.Gln611= | |
| NM_001382701.1:c.1548G>A | NP_001369630.1:p.Gln516= | |
| NM_001382702.1:c.330G>A | NP_001369631.1:p.Gln110= | |
| NR_168483.1:n.778G>A |