Linked Data
ClinVar Variation Id:
373353
ClinVar RCV Id:
RCV000414450
dbSNP Id:
rs1057518367
gnomAD v2:
5-86564812-G-A
gnomAD v4:
5-87268995-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87268995G>A , CM000667.2:g.87268995G>A | GRCh38 |
| NC_000005.9:g.86564812G>A , CM000667.1:g.86564812G>A | GRCh37 |
| NC_000005.8:g.86600568G>A | NCBI36 |
| NG_011650.1:g.5662G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.539+5G>A MANE Select | ENSP00000274376.6:n.539+5G>A | |
| ENST00000274376.10:c.539+5G>A | ENSP00000274376.6:n.539+5G>A | |
| ENST00000456692.6:c.-53G>A | ENSP00000411221.2:n.-53G>A | |
| ENST00000506290.1:c.-66G>A | ENSP00000420905.1:n.-66G>A | |
| ENST00000512763.5:c.-150G>A | ENSP00000422008.1:n.-150G>A | |
| ENST00000515800.6:c.539+5G>A | ENSP00000423395.2:n.539+5G>A | |
| NM_002890.2:c.539+5G>A | NP_002881.1:n.539+5G>A | |
| NM_022650.2:c.-53G>A | NP_072179.1:n.-53G>A | |
| XM_011543525.1:c.539+5G>A | XP_011541827.1:n.539+5G>A | |
| XM_011543526.1:c.539+5G>A | XP_011541828.1:n.539+5G>A | |
| XM_011543527.1:c.539+5G>A | XP_011541829.1:n.539+5G>A | |
| XM_011543525.2:c.539+5G>A | XP_011541827.1:n.539+5G>A | |
| XM_011543527.3:c.539+5G>A | XP_011541829.1:n.539+5G>A | |
| NM_002890.3:c.539+5G>A MANE Select | NP_002881.1:n.539+5G>A | |
| NM_022650.3:c.-53G>A | NP_072179.1:n.-53G>A |