Linked Data
ClinVar Variation Id:
374613
ClinVar RCV Id:
RCV000416259
dbSNP Id:
rs1057519172
gnomAD v2:
8-37601872-G-A
gnomAD v4:
8-37744354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37744354G>A , CM000670.2:g.37744354G>A | GRCh38 |
| NC_000008.10:g.37601872G>A , CM000670.1:g.37601872G>A | GRCh37 |
| NC_000008.9:g.37721030G>A | NCBI36 |
| NG_032059.1:g.12776G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519638.3:c.237-1G>A MANE Select | ENSP00000428112.1:n.237-1G>A | |
| ENST00000521993.3:n.166-1G>A | ||
| ENST00000647813.1:n.503-1G>A | ||
| ENST00000648919.1:c.237-1G>A | ENSP00000497100.1:n.237-1G>A | |
| ENST00000276461.9:c.237-1G>A | ENSP00000276461.5:n.237-1G>A | |
| ENST00000335171.10:c.237-1G>A | ENSP00000335220.6:n.237-1G>A | |
| ENST00000397228.6:c.237-1G>A | ENSP00000380405.2:n.237-1G>A | |
| ENST00000518526.5:c.108-1G>A | ENSP00000429229.1:n.108-1G>A | |
| ENST00000518586.5:c.237-1G>A | ENSP00000427847.1:n.237-1G>A | |
| ENST00000519638.1:c.237-1G>A | ENSP00000428112.1:n.237-1G>A | |
| ENST00000521644.5:c.237-1G>A | ENSP00000429621.1:n.237-1G>A | |
| ENST00000521993.2:n.130-1G>A | ||
| ENST00000523107.5:c.237-1G>A | ENSP00000473292.1:n.237-1G>A | |
| ENST00000523887.5:c.237-1G>A | ENSP00000429903.1:n.237-1G>A | |
| NM_001003790.3:c.237-1G>A | NP_001003790.1:n.237-1G>A | |
| NM_001003791.2:c.237-1G>A | NP_001003791.1:n.237-1G>A | |
| NM_007175.6:c.237-1G>A | NP_009106.1:n.237-1G>A | |
| XM_005273392.1:c.237-1G>A | XP_005273449.1:n.237-1G>A | |
| XM_006716280.1:c.-10-1G>A | XP_006716343.1:n.-10-1G>A | |
| NM_001362878.1:c.237-1G>A | NP_001349807.1:n.237-1G>A | |
| NM_001362880.1:c.237-1G>A | NP_001349809.1:n.237-1G>A | |
| NM_007175.7:c.237-1G>A | NP_009106.1:n.237-1G>A | |
| XM_005273392.3:c.237-1G>A | XP_005273449.1:n.237-1G>A | |
| XM_006716280.2:c.-10-1G>A | XP_006716343.1:n.-10-1G>A | |
| XM_017013000.1:c.237-1G>A | XP_016868489.1:n.237-1G>A | |
| XM_024447058.1:c.237-1G>A | XP_024302826.1:n.237-1G>A | |
| NM_001003790.4:c.237-1G>A | NP_001003790.1:n.237-1G>A | |
| NM_001003791.3:c.237-1G>A | NP_001003791.1:n.237-1G>A | |
| NM_001362878.2:c.237-1G>A | NP_001349807.1:n.237-1G>A | |
| NM_001362880.2:c.237-1G>A | NP_001349809.1:n.237-1G>A | |
| NM_007175.8:c.237-1G>A MANE Select | NP_009106.1:n.237-1G>A |