Linked Data
dbSNP Id:
rs2140148
gnomAD v2:
2-204572140-A-T
gnomAD v3:
2-203707417-A-T
gnomAD v4:
2-203707417-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203707417A>T , CM000664.2:g.203707417A>T | GRCh38 |
| NC_000002.11:g.204572140A>T , CM000664.1:g.204572140A>T | GRCh37 |
| NC_000002.10:g.204280385A>T | NCBI36 |
| NG_029618.1:g.5943A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324106.9:c.52+669A>T MANE Select | ENSP00000324890.7:n.52+669A>T | |
| ENST00000324106.8:c.52+669A>T | ENSP00000324890.7:n.52+669A>T | |
| ENST00000374481.7:c.52+669A>T | ENSP00000363605.4:n.52+669A>T | |
| ENST00000458610.6:c.94+800A>T | ENSP00000393648.2:n.94+800A>T | |
| NM_001243077.1:c.52+669A>T | NP_001230006.1:n.52+669A>T | |
| NM_001243078.1:c.52+669A>T | NP_001230007.1:n.52+669A>T | |
| NM_006139.3:c.52+669A>T | NP_006130.1:n.52+669A>T | |
| XM_006712862.2:c.94+800A>T | XP_006712925.1:n.94+800A>T | |
| XM_011512194.1:c.94+800A>T | XP_011510496.1:n.94+800A>T | |
| XM_011512195.1:c.94+800A>T | XP_011510497.1:n.94+800A>T | |
| XM_011512196.1:c.94+800A>T | XP_011510498.1:n.94+800A>T | |
| XM_011512197.1:c.52+669A>T | XP_011510499.1:n.52+669A>T | |
| XM_011512194.2:c.94+800A>T | XP_011510496.1:n.94+800A>T | |
| XM_011512195.3:c.94+800A>T | XP_011510497.1:n.94+800A>T | |
| XM_011512197.2:c.52+669A>T | XP_011510499.1:n.52+669A>T | |
| NM_006139.4:c.52+669A>T MANE Select | NP_006130.1:n.52+669A>T | |
| NM_001243077.2:c.52+669A>T | NP_001230006.1:n.52+669A>T | |
| NM_001243078.2:c.52+669A>T | NP_001230007.1:n.52+669A>T |