Linked Data
dbSNP Id:
rs759734515
ExAC:
19:41518264 C / G
gnomAD v2:
19-41518264-C-G
gnomAD v4:
19-41012359-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012359C>G , CM000681.2:g.41012359C>G | GRCh38 |
| NC_000019.9:g.41518264C>G , CM000681.1:g.41518264C>G | GRCh37 |
| NC_000019.8:g.46210104C>G | NCBI36 |
| NG_007929.1:g.26061C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1026C>G MANE Select | ENSP00000324648.2:p.Asp342Glu | |
| ENST00000598834.2:c.1050C>G | ||
| ENST00000324071.8:c.1026C>G | ENSP00000324648.2:p.Asp342Glu | |
| ENST00000593831.1:c.318C>G | ENSP00000470582.1:p.Asp106Glu | |
| ENST00000597612.1:n.521C>G | ||
| NM_000767.4:c.1026C>G | NP_000758.1:p.Asp342Glu | |
| XM_005258569.3:c.1026C>G | XP_005258626.1:p.Asp342Glu | |
| XM_006723050.2:c.1026C>G | XP_006723113.1:p.Asp342Glu | |
| XM_011526546.1:c.1026C>G | XP_011524848.1:p.Asp342Glu | |
| XM_011526547.1:c.1026C>G | XP_011524849.1:p.Asp342Glu | |
| XM_011526548.1:c.546C>G | XP_011524850.1:p.Asp182Glu | |
| XM_011526549.1:c.435C>G | XP_011524851.1:p.Asp145Glu | |
| XM_011526550.1:c.426C>G | XP_011524852.1:p.Asp142Glu | |
| NM_000767.5:c.1026C>G MANE Select | NP_000758.1:p.Asp342Glu |