Linked Data
ClinVar Variation Id:
182414
dbSNP Id:
rs1800586
ExAC:
9:21974860 C / A
gnomAD v2:
9-21974860-C-A
gnomAD v3:
9-21974861-C-A
gnomAD v4:
9-21974861-C-A
COSMIC:
COSM4387395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21974861C>A , CM000671.2:g.21974861C>A | GRCh38 |
| NC_000009.11:g.21974860C>A , CM000671.1:g.21974860C>A | GRCh37 |
| NC_000009.10:g.21964860C>A | NCBI36 |
| NG_007485.1:g.24631G>T , LRG_11:g.24631G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404796.3:c.348-54572C>A | ENSP00000385916.2:n.348-54572C>A | |
| ENST00000579755.2:c.194-3653G>T MANE Plus Clinical | ENSP00000462950.1:n.194-3653G>T | |
| ENST00000304494.9:c.-34G>T | ENSP00000307101.5:n.-34G>T | |
| ENST00000361570.4:c.194-3653G>T | ENSP00000355153.4:n.194-3653G>T | |
| ENST00000404796.2:c.348-54572C>A | ENSP00000385916.2:n.348-54572C>A | |
| ENST00000494262.5:c.-3-3653G>T | ENSP00000464952.1:n.-3-3653G>T | |
| ENST00000498124.1:c.-34G>T | ENSP00000418915.1:n.-34G>T | |
| ENST00000498628.6:c.-3-3653G>T | ENSP00000467857.1:n.-3-3653G>T | |
| ENST00000530628.2:c.194-3653G>T | ENSP00000432664.2:n.194-3653G>T | |
| ENST00000579755.1:c.194-3653G>T | ENSP00000462950.1:n.194-3653G>T | |
| NM_000077.4:c.-34G>T , LRG_11t1:c.-34G>T | NP_000068.1:n.-34G>T | |
| NM_001195132.1:c.-34G>T | NP_001182061.1:n.-34G>T | |
| NM_058195.3:c.194-3653G>T , LRG_11t2:c.194-3653G>T | NP_478102.2:n.194-3653G>T | |
| XM_011517675.1:c.-34G>T | XP_011515977.1:n.-34G>T | |
| XM_011517676.1:c.-34G>T | XP_011515978.1:n.-34G>T | |
| XM_011517679.1:c.-3-3653G>T | XP_011515981.1:n.-3-3653G>T | |
| XR_929159.1:n.368G>T | ||
| XR_929161.1:n.341-3653G>T | ||
| XR_929162.1:n.341-3653G>T | ||
| XR_929163.1:n.290-3653G>T | ||
| NM_001363763.1:c.-3-3653G>T | NP_001350692.1:n.-3-3653G>T | |
| XM_011517675.2:c.-34G>T | XP_011515977.1:n.-34G>T | |
| XM_011517676.2:c.-34G>T | XP_011515978.1:n.-34G>T | |
| XR_929159.2:n.297G>T | ||
| NM_001363763.2:c.-3-3653G>T | NP_001350692.1:n.-3-3653G>T | |
| NM_058195.4:c.194-3653G>T MANE Plus Clinical | NP_478102.2:n.194-3653G>T |