Linked Data
dbSNP Id:
rs1202154930
gnomAD v2:
9-21968059-G-A
gnomAD v3:
9-21968060-G-A
gnomAD v4:
9-21968060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21968060G>A , CM000671.2:g.21968060G>A | GRCh38 |
| NC_000009.11:g.21968059G>A , CM000671.1:g.21968059G>A | GRCh37 |
| NC_000009.10:g.21958059G>A | NCBI36 |
| NG_007485.1:g.31432C>T , LRG_11:g.31432C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304494.10:c.*169C>T MANE Select | ENSP00000307101.5:n.*169C>T | |
| ENST00000404796.3:c.348-61373G>A | ENSP00000385916.2:n.348-61373G>A | |
| ENST00000579755.2:c.*284C>T MANE Plus Clinical | ENSP00000462950.1:n.*284C>T | |
| ENST00000304494.9:c.*169C>T | ENSP00000307101.5:n.*169C>T | |
| ENST00000361570.4:c.*169C>T | ENSP00000355153.4:n.*169C>T | |
| ENST00000404796.2:c.348-61373G>A | ENSP00000385916.2:n.348-61373G>A | |
| ENST00000498124.1:c.*333C>T | ENSP00000418915.1:n.*333C>T | |
| ENST00000530628.2:c.*210C>T | ENSP00000432664.2:n.*210C>T | |
| ENST00000578845.2:c.*169C>T | ENSP00000467390.1:n.*169C>T | |
| ENST00000579122.1:c.*149C>T | ENSP00000464202.1:n.*149C>T | |
| ENST00000579755.1:c.*284C>T | ENSP00000462950.1:n.*284C>T | |
| NM_000077.4:c.*169C>T , LRG_11t1:c.*169C>T | NP_000068.1:n.*169C>T | |
| NM_001195132.1:c.*333C>T | NP_001182061.1:n.*333C>T | |
| NM_058195.3:c.*284C>T , LRG_11t2:c.*284C>T | NP_478102.2:n.*284C>T | |
| NM_058197.4:c.914C>T | NP_478104.2:n.914C>T | |
| XM_005251343.1:c.*169C>T | XP_005251400.1:n.*169C>T | |
| XM_011517679.1:c.*169C>T | XP_011515981.1:n.*169C>T | |
| NM_001363763.1:c.*169C>T | NP_001350692.1:n.*169C>T | |
| NM_001363763.2:c.*169C>T | NP_001350692.1:n.*169C>T | |
| NM_000077.5:c.*169C>T MANE Select | NP_000068.1:n.*169C>T | |
| NM_001195132.2:c.*333C>T | NP_001182061.1:n.*333C>T | |
| NM_058195.4:c.*284C>T MANE Plus Clinical | NP_478102.2:n.*284C>T | |
| NM_058197.5:c.*563C>T | NP_478104.2:n.*563C>T |