Linked Data
dbSNP Id:
rs3887820
gnomAD v2:
1-111148080-C-A
gnomAD v3:
1-110605458-C-A
gnomAD v4:
1-110605458-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110605458C>A , CM000663.2:g.110605458C>A | GRCh38 |
| NC_000001.10:g.111148080C>A , CM000663.1:g.111148080C>A | GRCh37 |
| NC_000001.9:g.110949603C>A | NCBI36 |
| NG_027997.2:g.31017G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316361.10:c.-231G>T MANE Select | ENSP00000314520.4:n.-231G>T | |
| ENST00000485317.6:c.-231G>T | ENSP00000433109.1:n.-231G>T | |
| ENST00000525120.2:n.294G>T | ||
| ENST00000638477.2:c.-154G>T | ENSP00000491354.1:n.-154G>T | |
| ENST00000638532.1:c.-231G>T | ENSP00000491613.1:n.-231G>T | |
| ENST00000638616.2:c.-231G>T | ENSP00000491977.1:n.-231G>T | |
| ENST00000639048.2:c.-154G>T | ENSP00000491627.1:n.-154G>T | |
| ENST00000639233.2:c.-114G>T | ENSP00000492716.1:n.-114G>T | |
| ENST00000640680.1:n.392G>T | ||
| ENST00000640774.2:c.-154G>T | ENSP00000492008.1:n.-154G>T | |
| ENST00000640956.1:c.-115G>T | ENSP00000491647.1:n.-115G>T | |
| ENST00000675391.1:c.-441G>T | ENSP00000502642.1:n.-441G>T | |
| ENST00000316361.8:c.-231G>T | ENSP00000314520.4:n.-231G>T | |
| ENST00000369770.7:c.-231G>T | ENSP00000358785.3:n.-231G>T | |
| ENST00000485317.5:c.-231G>T | ENSP00000433109.1:n.-231G>T | |
| ENST00000525120.1:n.402G>T | ||
| ENST00000633222.1:c.-231G>T | ENSP00000487785.1:n.-231G>T | |
| NM_001204269.1:c.-231G>T | NP_001191198.1:n.-231G>T | |
| NM_004974.3:c.-231G>T | NP_004965.1:n.-231G>T | |
| XM_011541396.1:c.-231G>T | XP_011539698.1:n.-231G>T | |
| XM_011541397.1:c.-231G>T | XP_011539699.1:n.-231G>T | |
| XM_011541398.1:c.-231G>T | XP_011539700.1:n.-231G>T | |
| XM_011541399.1:c.-231G>T | XP_011539701.1:n.-231G>T | |
| XM_011541400.1:c.-231G>T | XP_011539702.1:n.-231G>T | |
| XM_011541396.2:c.-231G>T | XP_011539698.1:n.-231G>T | |
| XM_011541397.2:c.-231G>T | XP_011539699.1:n.-231G>T | |
| XM_011541398.2:c.-231G>T | XP_011539700.1:n.-231G>T | |
| XM_011541399.2:c.-231G>T | XP_011539701.1:n.-231G>T | |
| XM_011541400.2:c.-231G>T | XP_011539702.1:n.-231G>T | |
| XM_017001213.1:c.-231G>T | XP_016856702.1:n.-231G>T | |
| NM_004974.4:c.-231G>T MANE Select | NP_004965.1:n.-231G>T | |
| NM_001204269.2:c.-231G>T | NP_001191198.1:n.-231G>T |