Linked Data
dbSNP Id:
rs246246
gnomAD v2:
5-129056759-G-T
gnomAD v3:
5-129721066-G-T
gnomAD v4:
5-129721066-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.129721066G>T , CM000667.2:g.129721066G>T | GRCh38 |
| NC_000005.9:g.129056759G>T , CM000667.1:g.129056759G>T | GRCh37 |
| NC_000005.8:g.129084658G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274487.9:c.3313-13866G>T MANE Select | ENSP00000274487.5:n.3313-13866G>T | |
| ENST00000274487.8:c.3295-13866G>T | ENSP00000274487.4:n.3295-13866G>T | |
| ENST00000509467.1:n.610-13866G>T | ||
| NM_133638.3:c.3295-13866G>T | NP_598377.3:n.3295-13866G>T | |
| XM_011543246.1:c.2626-13866G>T | XP_011541548.1:n.2626-13866G>T | |
| XM_011543247.1:c.2155-13866G>T | XP_011541549.1:n.2155-13866G>T | |
| XM_011543248.1:c.2155-13866G>T | XP_011541550.1:n.2155-13866G>T | |
| XM_011543249.1:c.2014-13866G>T | XP_011541551.1:n.2014-13866G>T | |
| NM_133638.4:c.3313-13866G>T | NP_598377.4:n.3313-13866G>T | |
| XM_011543246.2:c.2626-13866G>T | XP_011541548.1:n.2626-13866G>T | |
| XM_011543247.2:c.2155-13866G>T | XP_011541549.1:n.2155-13866G>T | |
| XM_011543248.2:c.2155-13866G>T | XP_011541550.1:n.2155-13866G>T | |
| XM_011543249.2:c.2014-13866G>T | XP_011541551.1:n.2014-13866G>T | |
| XM_017009174.1:c.2332-13866G>T | XP_016864663.1:n.2332-13866G>T | |
| XM_017009175.1:c.2014-13866G>T | XP_016864664.1:n.2014-13866G>T | |
| XM_017009176.1:c.2002-13866G>T | XP_016864665.1:n.2002-13866G>T | |
| NM_133638.5:c.3313-13866G>T | NP_598377.4:n.3313-13866G>T | |
| NM_133638.6:c.3313-13866G>T MANE Select | NP_598377.4:n.3313-13866G>T |