Linked Data
ClinVar Variation Id:
56305
dbSNP Id:
rs386833753
gnomAD v4:
4-15569290-C-A
PubMed:
PMID:19777577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15569290C>A , CM000666.2:g.15569290C>A | GRCh38 |
| NC_000004.11:g.15570913C>A , CM000666.1:g.15570913C>A | GRCh37 |
| NC_000004.10:g.15180011C>A | NCBI36 |
| NG_013035.1:g.104425C>A , LRG_697:g.104425C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.3414-3C>A | ENSP00000374303.8:n.3414-3C>A | |
| ENST00000424120.6:c.3399-3C>A MANE Select | ENSP00000403465.1:n.3399-3C>A | |
| ENST00000503292.6:c.3399-3C>A | ENSP00000421809.1:n.3399-3C>A | |
| ENST00000506643.5:c.3252-3C>A | ENSP00000422931.2:n.3252-3C>A | |
| ENST00000634028.2:c.3252-3C>A | ENSP00000488669.2:n.3252-3C>A | |
| ENST00000650860.2:c.*405-3C>A | ENSP00000498775.1:n.*405-3C>A | |
| ENST00000674945.1:c.3252-3C>A | ENSP00000502333.1:n.3252-3C>A | |
| ENST00000675619.1:n.4210-3C>A | ||
| ENST00000675768.1:n.619-3C>A | ||
| ENST00000676337.1:c.*405-3C>A | ENSP00000501728.1:n.*405-3C>A | |
| ENST00000680586.1:n.4058-3C>A | ||
| ENST00000389652.9:c.2876-3C>A | ||
| ENST00000424120.5:c.3399-3C>A | ENSP00000403465.1:n.3399-3C>A | |
| ENST00000503292.5:c.3399-3C>A | ENSP00000421809.1:n.3399-3C>A | |
| ENST00000506643.4:c.1727-3C>A | ||
| ENST00000634028.1:c.3382-3C>A | ENSP00000488669.1:n.3382-3C>A | |
| NM_001080522.2:c.3399-3C>A , LRG_697t1:c.3399-3C>A | NP_001073991.2:n.3399-3C>A | |
| XM_005248177.1:c.3399-3C>A | XP_005248234.1:n.3399-3C>A | |
| XM_011513869.1:c.3399-3C>A | XP_011512171.1:n.3399-3C>A | |
| XM_011513870.1:c.3399-3C>A | XP_011512172.1:n.3399-3C>A | |
| XM_011513871.1:c.3252-3C>A | XP_011512173.1:n.3252-3C>A | |
| XM_017008482.1:c.3252-3C>A | XP_016863971.1:n.3252-3C>A | |
| XR_001741296.1:n.3644-3C>A | ||
| NM_001378615.1:c.3399-3C>A MANE Select | NP_001365544.1:n.3399-3C>A | |
| NM_001378617.1:c.3252-3C>A | NP_001365546.1:n.3252-3C>A |