Linked Data
ClinVar Variation Id:
2893539
ClinVar RCV Id:
RCV003732877
dbSNP Id:
rs765596317
gnomAD v2:
9-37428582-C-A
gnomAD v4:
9-37428585-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37428585C>A , CM000671.2:g.37428585C>A | GRCh38 |
| NC_000009.11:g.37428582C>A , CM000671.1:g.37428582C>A | GRCh37 |
| NC_000009.10:g.37418582C>A | NCBI36 |
| NG_008135.1:g.10876C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.493+13C>A MANE Select | ENSP00000313432.6:n.493+13C>A | |
| ENST00000318158.10:c.493+13C>A | ENSP00000313432.6:n.493+13C>A | |
| ENST00000377824.8:n.530+13C>A | ||
| ENST00000460882.5:n.520+13C>A | ||
| ENST00000480596.5:n.48C>A | ||
| ENST00000491488.5:n.198+13C>A | ||
| ENST00000493368.5:n.563C>A | ||
| ENST00000497693.1:n.880C>A | ||
| ENST00000607784.1:c.493+13C>A | ENSP00000475569.1:n.493+13C>A | |
| NM_012203.1:c.493+13C>A | NP_036335.1:n.493+13C>A | |
| XM_005251631.1:c.172+13C>A | XP_005251688.1:n.172+13C>A | |
| XM_011518073.1:c.-257C>A | XP_011516375.1:n.-257C>A | |
| XR_929374.1:n.591C>A | ||
| XM_017015320.2:c.493+13C>A | XP_016870809.1:n.493+13C>A | |
| XM_017015321.2:c.493+13C>A | XP_016870810.1:n.493+13C>A | |
| XM_017015323.2:c.-257C>A | XP_016870812.1:n.-257C>A | |
| XM_024447716.1:c.766+13C>A | XP_024303484.1:n.766+13C>A | |
| XM_024447717.1:c.766+13C>A | XP_024303485.1:n.766+13C>A | |
| XR_002956828.1:n.781+13C>A | ||
| XR_002956829.1:n.781+13C>A | ||
| XR_002956830.1:n.552+13C>A | ||
| XR_002956831.1:n.227+13C>A | ||
| XR_002956832.1:n.565C>A | ||
| NM_012203.2:c.493+13C>A MANE Select | NP_036335.1:n.493+13C>A |