Linked Data
dbSNP Id:
rs11126936
gnomAD v2:
2-27483101-G-T
gnomAD v3:
2-27260233-G-T
gnomAD v4:
2-27260233-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27260233G>T , CM000664.2:g.27260233G>T | GRCh38 |
| NC_000002.11:g.27483101G>T , CM000664.1:g.27483101G>T | GRCh37 |
| NC_000002.10:g.27336605G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233535.9:c.96-1299C>A MANE Select | ENSP00000233535.4:n.96-1299C>A | |
| ENST00000233535.8:c.96-1299C>A | ENSP00000233535.4:n.96-1299C>A | |
| ENST00000424577.5:c.30-1299C>A | ENSP00000403959.1:n.30-1299C>A | |
| ENST00000426569.1:c.-52-1299C>A | ENSP00000392673.1:n.-52-1299C>A | |
| ENST00000426924.5:c.57-1299C>A | ENSP00000393545.1:n.57-1299C>A | |
| ENST00000432351.5:c.-52-1299C>A | ENSP00000414320.1:n.-52-1299C>A | |
| ENST00000445870.5:c.61-1299C>A | ||
| ENST00000450118.5:c.-41-1310C>A | ENSP00000403912.1:n.-41-1310C>A | |
| NM_003459.4:c.96-1299C>A | NP_003450.2:n.96-1299C>A | |
| XM_005264547.1:c.96-1299C>A | XP_005264604.1:n.96-1299C>A | |
| XM_005264548.3:c.81-1299C>A | XP_005264605.1:n.81-1299C>A | |
| XM_005264551.3:c.81-1299C>A | XP_005264608.1:n.81-1299C>A | |
| XM_006712100.2:c.-53+200C>A | XP_006712163.1:n.-53+200C>A | |
| XM_011533100.1:c.30-1299C>A | XP_011531402.1:n.30-1299C>A | |
| XM_011533101.1:c.57-1299C>A | XP_011531403.1:n.57-1299C>A | |
| XM_011533102.1:c.8-1299C>A | XP_011531404.1:n.8-1299C>A | |
| XM_011533103.1:c.-116-1299C>A | XP_011531405.1:n.-116-1299C>A | |
| NM_001318949.1:c.81-1299C>A | NP_001305878.1:n.81-1299C>A | |
| NM_001318950.1:c.57-1299C>A | NP_001305879.1:n.57-1299C>A | |
| NM_001318951.1:c.57-1299C>A | NP_001305880.1:n.57-1299C>A | |
| XM_005264547.2:c.96-1299C>A | XP_005264604.1:n.96-1299C>A | |
| XM_011533102.2:c.8-1299C>A | XP_011531404.1:n.8-1299C>A | |
| XM_011533103.2:c.-116-1299C>A | XP_011531405.1:n.-116-1299C>A | |
| XM_017004873.1:c.57-1299C>A | XP_016860362.1:n.57-1299C>A | |
| XM_017004874.1:c.57-1299C>A | XP_016860363.1:n.57-1299C>A | |
| XM_017004875.2:c.30-1299C>A | XP_016860364.1:n.30-1299C>A | |
| NM_001318949.2:c.81-1299C>A | NP_001305878.1:n.81-1299C>A | |
| NM_001318951.2:c.57-1299C>A | NP_001305880.1:n.57-1299C>A | |
| NM_003459.5:c.96-1299C>A MANE Select | NP_003450.2:n.96-1299C>A | |
| NM_001318950.2:c.57-1299C>A | NP_001305879.1:n.57-1299C>A |