Linked Data
dbSNP Id:
rs1256021073
gnomAD v2:
5-86564829-G-T
gnomAD v3:
5-87269012-G-T
gnomAD v4:
5-87269012-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87269012G>T , CM000667.2:g.87269012G>T | GRCh38 |
| NC_000005.9:g.86564829G>T , CM000667.1:g.86564829G>T | GRCh37 |
| NC_000005.8:g.86600585G>T | NCBI36 |
| NG_011650.1:g.5679G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.539+22G>T MANE Select | ENSP00000274376.6:n.539+22G>T | |
| ENST00000274376.10:c.539+22G>T | ENSP00000274376.6:n.539+22G>T | |
| ENST00000456692.6:c.-36G>T | ENSP00000411221.2:n.-36G>T | |
| ENST00000506290.1:c.-49G>T | ENSP00000420905.1:n.-49G>T | |
| ENST00000512763.5:c.-133G>T | ENSP00000422008.1:n.-133G>T | |
| ENST00000515800.6:c.539+22G>T | ENSP00000423395.2:n.539+22G>T | |
| NM_002890.2:c.539+22G>T | NP_002881.1:n.539+22G>T | |
| NM_022650.2:c.-36G>T | NP_072179.1:n.-36G>T | |
| XM_011543525.1:c.539+22G>T | XP_011541827.1:n.539+22G>T | |
| XM_011543526.1:c.539+22G>T | XP_011541828.1:n.539+22G>T | |
| XM_011543527.1:c.539+22G>T | XP_011541829.1:n.539+22G>T | |
| XM_011543525.2:c.539+22G>T | XP_011541827.1:n.539+22G>T | |
| XM_011543527.3:c.539+22G>T | XP_011541829.1:n.539+22G>T | |
| NM_002890.3:c.539+22G>T MANE Select | NP_002881.1:n.539+22G>T | |
| NM_022650.3:c.-36G>T | NP_072179.1:n.-36G>T |