Linked Data
dbSNP Id:
rs752530323
ExAC:
5:127671690 C / T
gnomAD v2:
5-127671690-C-T
gnomAD v4:
5-128335998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335998C>T , CM000667.2:g.128335998C>T | GRCh38 |
| NC_000005.9:g.127671690C>T , CM000667.1:g.127671690C>T | GRCh37 |
| NC_000005.8:g.127699589C>T | NCBI36 |
| NG_008750.1:g.207046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.498G>A | ||
| ENST00000703785.1:n.579G>A | ||
| ENST00000262464.9:c.3714G>A MANE Select | ENSP00000262464.4:p.Gln1238= | |
| ENST00000262464.8:c.3714G>A | ENSP00000262464.4:p.Gln1238= | |
| ENST00000507835.5:c.264G>A | ENSP00000426839.1:p.Gln88= | |
| ENST00000508053.5:c.3714G>A | ENSP00000424571.1:p.Gln1238= | |
| ENST00000508989.5:c.3615G>A | ENSP00000425596.1:p.Gln1205= | |
| ENST00000619499.4:c.3711G>A | ENSP00000482132.1:p.Gln1237= | |
| NM_001999.3:c.3714G>A | NP_001990.2:p.Gln1238= | |
| XM_017009228.2:c.3561G>A | XP_016864717.1:p.Gln1187= | |
| NM_001999.4:c.3714G>A MANE Select | NP_001990.2:p.Gln1238= |