Linked Data
dbSNP Id:
rs32582
gnomAD v2:
5-149205417-C-A
gnomAD v3:
5-149825854-C-A
gnomAD v4:
5-149825854-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149825854C>A , CM000667.2:g.149825854C>A | GRCh38 |
| NC_000005.9:g.149205417C>A , CM000667.1:g.149205417C>A | GRCh37 |
| NC_000005.8:g.149185610C>A | NCBI36 |
| NG_016747.1:g.100603C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309241.10:c.253-819C>A MANE Select | ENSP00000312649.5:n.253-819C>A | |
| ENST00000309241.9:c.253-819C>A | ENSP00000312649.5:n.253-819C>A | |
| ENST00000360453.8:c.253-819C>A | ENSP00000353638.4:n.253-819C>A | |
| ENST00000394320.7:c.253-819C>A | ENSP00000377855.3:n.253-819C>A | |
| ENST00000403750.5:c.178-819C>A | ENSP00000384403.1:n.178-819C>A | |
| NM_001172698.1:c.253-819C>A | NP_001166169.1:n.253-819C>A | |
| NM_001172699.1:c.178-819C>A | NP_001166170.1:n.178-819C>A | |
| NM_133263.3:c.253-819C>A | NP_573570.3:n.253-819C>A | |
| XM_005268372.3:c.190-819C>A | XP_005268429.1:n.190-819C>A | |
| XM_011537553.1:c.253-819C>A | XP_011535855.1:n.253-819C>A | |
| XM_011537554.1:c.190-819C>A | XP_011535856.1:n.190-819C>A | |
| XM_011537555.1:c.253-819C>A | XP_011535857.1:n.253-819C>A | |
| XM_011537556.1:c.-243-819C>A | XP_011535858.1:n.-243-819C>A | |
| XM_011537557.1:c.253-819C>A | XP_011535859.1:n.253-819C>A | |
| XM_005268372.4:c.190-819C>A | XP_005268429.1:n.190-819C>A | |
| XM_011537553.2:c.253-819C>A | XP_011535855.1:n.253-819C>A | |
| XM_011537554.2:c.190-819C>A | XP_011535856.1:n.190-819C>A | |
| XM_011537555.2:c.253-819C>A | XP_011535857.1:n.253-819C>A | |
| XM_011537556.2:c.-243-819C>A | XP_011535858.1:n.-243-819C>A | |
| NM_133263.4:c.253-819C>A MANE Select | NP_573570.3:n.253-819C>A | |
| NM_001172698.2:c.253-819C>A | NP_001166169.1:n.253-819C>A | |
| NM_001172699.2:c.178-819C>A | NP_001166170.1:n.178-819C>A |