Linked Data
dbSNP Id:
rs1341492090
gnomAD v2:
15-74710302-C-T
gnomAD v3:
15-74417961-C-T
gnomAD v4:
15-74417961-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74417961C>T , CM000677.2:g.74417961C>T | GRCh38 |
| NC_000015.9:g.74710302C>T , CM000677.1:g.74710302C>T | GRCh37 |
| NC_000015.8:g.72497355C>T | NCBI36 |
| NG_011733.1:g.20998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261918.9:c.381G>A MANE Select | ENSP00000261918.4:p.Glu127= | |
| ENST00000542748.6:c.-115G>A | ENSP00000441493.1:n.-115G>A | |
| ENST00000261918.8:c.381G>A | ENSP00000261918.4:p.Glu127= | |
| ENST00000542748.5:c.-115G>A | ENSP00000441493.1:n.-115G>A | |
| ENST00000543145.6:c.339G>A | ENSP00000438966.2:p.Glu113= | |
| ENST00000567345.1:c.-115G>A | ENSP00000454365.1:n.-115G>A | |
| NM_001146029.1:c.339G>A | NP_001139501.1:p.Glu113= | |
| NM_001146030.1:c.-115G>A | NP_001139502.1:n.-115G>A | |
| NM_003612.3:c.381G>A | NP_003603.1:p.Glu127= | |
| NM_001146029.2:c.339G>A | NP_001139501.1:p.Glu113= | |
| NM_001146030.2:c.-115G>A | NP_001139502.1:n.-115G>A | |
| NM_003612.4:c.381G>A | NP_003603.1:p.Glu127= | |
| NM_003612.5:c.381G>A MANE Select | NP_003603.1:p.Glu127= | |
| NM_001146029.3:c.339G>A | NP_001139501.1:p.Glu113= | |
| NM_001146030.3:c.-115G>A | NP_001139502.1:n.-115G>A |