Linked Data
dbSNP Id:
rs1164039260
gnomAD v2:
18-57136793-G-T
gnomAD v3:
18-59469561-G-T
gnomAD v4:
18-59469561-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59469561G>T , CM000680.2:g.59469561G>T | GRCh38 |
| NC_000018.9:g.57136793G>T , CM000680.1:g.57136793G>T | GRCh37 |
| NC_000018.8:g.55287773G>T | NCBI36 |
| NG_016990.1:g.232852C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589419.2:n.315C>A | ||
| ENST00000650467.2:c.312C>A | ENSP00000496897.2:p.Asp104Glu | |
| ENST00000695903.1:c.312C>A | ENSP00000512255.1:p.Asp104Glu | |
| ENST00000695904.1:c.312C>A | ENSP00000512259.1:p.Asp104Glu | |
| ENST00000439986.9:c.312C>A MANE Select | ENSP00000404464.2:p.Asp104Glu | |
| ENST00000649564.1:c.312C>A | ENSP00000497183.1:p.Asp104Glu | |
| ENST00000650467.1:c.190C>A | ||
| ENST00000398179.3:c.102C>A | ENSP00000381241.3:p.Asp34Glu | |
| ENST00000439986.8:c.312C>A | ENSP00000404464.2:p.Asp104Glu | |
| ENST00000589419.1:c.-262C>A | ENSP00000467710.1:n.-262C>A | |
| NM_133459.3:c.312C>A | NP_597716.1:p.Asp104Glu | |
| XM_005266648.2:c.312C>A | XP_005266705.1:p.Asp104Glu | |
| NM_133459.4:c.312C>A MANE Select | NP_597716.1:p.Asp104Glu | |
| XM_017025556.1:c.312C>A | XP_016881045.1:p.Asp104Glu | |
| XM_017025557.1:c.312C>A | XP_016881046.1:p.Asp104Glu | |
| XM_017025558.1:c.312C>A | XP_016881047.1:p.Asp104Glu | |
| XM_024451091.1:c.312C>A | XP_024306859.1:p.Asp104Glu | |
| XR_001753142.1:n.1151C>A |