Linked Data
ClinVar Variation Id:
364531
dbSNP Id:
rs41277801
gnomAD v2:
9-108403123-G-A
gnomAD v3:
9-105640842-G-A
gnomAD v4:
9-105640842-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105640842G>A , CM000671.2:g.105640842G>A | GRCh38 |
| NC_000009.11:g.108403123G>A , CM000671.1:g.108403123G>A | GRCh37 |
| NC_000009.10:g.107442944G>A | NCBI36 |
| NG_008754.1:g.87713G>A , LRG_434:g.87713G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357998.10:c.*5578G>A MANE Select | ENSP00000350687.6:n.*5578G>A | |
| ENST00000674633.1:c.1271-3862G>A | ENSP00000502164.1:n.1271-3862G>A | |
| ENST00000675695.1:c.*5945G>A | ENSP00000502460.1:n.*5945G>A | |
| ENST00000676310.1:c.1270+5694G>A | ENSP00000501585.1:n.1270+5694G>A | |
| ENST00000223528.6:c.*5578G>A | ENSP00000223528.2:n.*5578G>A | |
| ENST00000357998.9:c.*719G>A | ENSP00000350687.5:n.*719G>A | |
| NM_001079802.1:c.*5578G>A , LRG_434t1:c.*5578G>A | NP_001073270.1:n.*5578G>A | |
| NM_001198963.1:c.*719G>A | NP_001185892.1:n.*719G>A | |
| NM_006731.2:c.*5578G>A , LRG_434t2:c.*5578G>A | NP_006722.2:n.*5578G>A | |
| XM_006717014.2:c.*5756G>A | XP_006717077.1:n.*5756G>A | |
| NM_001351496.1:c.*5578G>A | NP_001338425.1:n.*5578G>A | |
| NM_001351497.1:c.*5578G>A | NP_001338426.1:n.*5578G>A | |
| NM_001351498.1:c.*5756G>A | NP_001338427.1:n.*5756G>A | |
| NM_001351499.1:c.*5578G>A | NP_001338428.1:n.*5578G>A | |
| NM_001351500.1:c.*5578G>A | NP_001338429.1:n.*5578G>A | |
| NM_001351501.1:c.*5578G>A | NP_001338430.1:n.*5578G>A | |
| NM_001351502.1:c.*5578G>A | NP_001338431.1:n.*5578G>A | |
| NR_147213.1:n.7088G>A | ||
| NR_147214.1:n.7260G>A | ||
| XM_011518391.2:c.*5756G>A | XP_011516693.1:n.*5756G>A | |
| XM_017014464.1:c.1271-4623G>A | XP_016869953.1:n.1271-4623G>A | |
| XM_017014465.1:c.1271-4623G>A | XP_016869954.1:n.1271-4623G>A | |
| XM_017014467.1:c.*5578G>A | XP_016869956.1:n.*5578G>A | |
| XM_017014468.1:c.*5578G>A | XP_016869957.1:n.*5578G>A | |
| XM_017014469.1:c.1271-4623G>A | XP_016869958.1:n.1271-4623G>A | |
| XM_017014470.1:c.1271-3862G>A | XP_016869959.1:n.1271-3862G>A | |
| XR_001746242.2:n.1838-4623G>A | ||
| XR_001746244.2:n.1666-4623G>A | ||
| XR_001746245.1:n.7350G>A | ||
| XR_001746248.1:n.8443G>A | ||
| XR_002956770.1:n.7206G>A | ||
| NM_001079802.2:c.*5578G>A MANE Select | NP_001073270.1:n.*5578G>A | |
| NM_001198963.2:c.*719G>A | NP_001185892.1:n.*719G>A | |
| NM_001351496.2:c.*5578G>A | NP_001338425.1:n.*5578G>A | |
| NM_001351497.2:c.*5578G>A | NP_001338426.1:n.*5578G>A | |
| NM_001351498.2:c.*5756G>A | NP_001338427.1:n.*5756G>A | |
| NM_001351499.2:c.*5578G>A | NP_001338428.1:n.*5578G>A | |
| NM_001351500.2:c.*5578G>A | NP_001338429.1:n.*5578G>A | |
| NM_001351501.2:c.*5578G>A | NP_001338430.1:n.*5578G>A | |
| NM_001351502.2:c.*5578G>A | NP_001338431.1:n.*5578G>A | |
| NR_147213.2:n.7087G>A | ||
| NR_147214.2:n.7259G>A |