Linked Data
ClinVar Variation Id:
1177438
ClinVar RCV Id:
RCV001533208
dbSNP Id:
rs2131111833
MutSpliceDB:
CA373086473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21974677C>A , CM000671.2:g.21974677C>A | GRCh38 |
| NC_000009.11:g.21974676C>A , CM000671.1:g.21974676C>A | GRCh37 |
| NC_000009.10:g.21964676C>A | NCBI36 |
| NG_007485.1:g.24815G>T , LRG_11:g.24815G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304494.10:c.150+1G>T MANE Select | ENSP00000307101.5:n.150+1G>T | |
| ENST00000404796.3:c.348-54756C>A | ENSP00000385916.2:n.348-54756C>A | |
| ENST00000579755.2:c.194-3469G>T MANE Plus Clinical | ENSP00000462950.1:n.194-3469G>T | |
| ENST00000304494.9:c.150+1G>T | ENSP00000307101.5:n.150+1G>T | |
| ENST00000361570.4:c.194-3469G>T | ENSP00000355153.4:n.194-3469G>T | |
| ENST00000380151.3:c.151G>T | ENSP00000369496.3:p.Val51Leu | |
| ENST00000404796.2:c.348-54756C>A | ENSP00000385916.2:n.348-54756C>A | |
| ENST00000494262.5:c.-3-3469G>T | ENSP00000464952.1:n.-3-3469G>T | |
| ENST00000498124.1:c.150+1G>T | ENSP00000418915.1:n.150+1G>T | |
| ENST00000498628.6:c.-3-3469G>T | ENSP00000467857.1:n.-3-3469G>T | |
| ENST00000530628.2:c.194-3469G>T | ENSP00000432664.2:n.194-3469G>T | |
| ENST00000579122.1:c.150+1G>T | ENSP00000464202.1:n.150+1G>T | |
| ENST00000579755.1:c.194-3469G>T | ENSP00000462950.1:n.194-3469G>T | |
| NM_000077.4:c.150+1G>T , LRG_11t1:c.150+1G>T | NP_000068.1:n.150+1G>T | |
| NM_001195132.1:c.150+1G>T | NP_001182061.1:n.150+1G>T | |
| NM_058195.3:c.194-3469G>T , LRG_11t2:c.194-3469G>T | NP_478102.2:n.194-3469G>T | |
| NM_058197.4:c.151G>T | NP_478104.2:p.Val51Leu | |
| XM_011517675.1:c.150+1G>T | XP_011515977.1:n.150+1G>T | |
| XM_011517676.1:c.150+1G>T | XP_011515978.1:n.150+1G>T | |
| XM_011517679.1:c.-3-3469G>T | XP_011515981.1:n.-3-3469G>T | |
| XR_929159.1:n.551+1G>T | ||
| XR_929161.1:n.341-3469G>T | ||
| XR_929162.1:n.341-3469G>T | ||
| XR_929163.1:n.290-3469G>T | ||
| NM_001363763.1:c.-3-3469G>T | NP_001350692.1:n.-3-3469G>T | |
| XM_011517675.2:c.150+1G>T | XP_011515977.1:n.150+1G>T | |
| XM_011517676.2:c.150+1G>T | XP_011515978.1:n.150+1G>T | |
| XR_929159.2:n.480+1G>T | ||
| NM_001363763.2:c.-3-3469G>T | NP_001350692.1:n.-3-3469G>T | |
| NM_000077.5:c.150+1G>T MANE Select | NP_000068.1:n.150+1G>T | |
| NM_001195132.2:c.150+1G>T | NP_001182061.1:n.150+1G>T | |
| NM_058195.4:c.194-3469G>T MANE Plus Clinical | NP_478102.2:n.194-3469G>T | |
| NM_058197.5:c.151G>T | NP_478104.2:p.Val51Leu |