Linked Data
ClinVar Variation Id:
292864
dbSNP Id:
rs117762142
gnomAD v2:
1-156146976-G-T
gnomAD v3:
1-156177185-G-T
gnomAD v4:
1-156177185-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156177185G>T , CM000663.2:g.156177185G>T | GRCh38 |
| NC_000001.10:g.156146976G>T , CM000663.1:g.156146976G>T | GRCh37 |
| NC_000001.9:g.154413600G>T | NCBI36 |
| NG_027683.1:g.32242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368285.8:c.*188G>T MANE Select | ENSP00000357268.3:n.*188G>T | |
| ENST00000355014.6:c.*188G>T | ENSP00000347117.2:n.*188G>T | |
| ENST00000368282.1:c.*188G>T | ENSP00000357265.1:n.*188G>T | |
| ENST00000368284.5:c.*188G>T | ENSP00000357267.1:n.*188G>T | |
| ENST00000368285.7:c.*188G>T | ENSP00000357268.3:n.*188G>T | |
| ENST00000368286.6:c.*188G>T | ENSP00000357269.3:n.*188G>T | |
| NM_001193300.1:c.*188G>T | NP_001180229.1:n.*188G>T | |
| NM_001193301.1:c.*188G>T | NP_001180230.1:n.*188G>T | |
| NM_001193302.1:c.*188G>T | NP_001180231.1:n.*188G>T | |
| NM_022367.3:c.*188G>T | NP_071762.2:n.*188G>T | |
| XM_011509871.1:c.*188G>T | XP_011508173.1:n.*188G>T | |
| XM_011509872.1:c.*188G>T | XP_011508174.1:n.*188G>T | |
| XM_011509873.1:c.*188G>T | XP_011508175.1:n.*188G>T | |
| XM_011509874.1:c.*188G>T | XP_011508176.1:n.*188G>T | |
| XM_011509875.1:c.*188G>T | XP_011508177.1:n.*188G>T | |
| XM_011509876.1:c.*188G>T | XP_011508178.1:n.*188G>T | |
| XM_011509877.1:c.*188G>T | XP_011508179.1:n.*188G>T | |
| XM_011509878.1:c.*188G>T | XP_011508180.1:n.*188G>T | |
| XM_011509879.1:c.*188G>T | XP_011508181.1:n.*188G>T | |
| XM_011509871.3:c.*188G>T | XP_011508173.1:n.*188G>T | |
| XM_011509872.2:c.*188G>T | XP_011508174.1:n.*188G>T | |
| XM_011509873.2:c.*188G>T | XP_011508175.1:n.*188G>T | |
| XM_011509874.2:c.*188G>T | XP_011508176.1:n.*188G>T | |
| XM_011509875.3:c.*188G>T | XP_011508177.1:n.*188G>T | |
| XM_011509876.2:c.*188G>T | XP_011508178.1:n.*188G>T | |
| XM_011509878.2:c.*188G>T | XP_011508180.1:n.*188G>T | |
| XM_011509879.2:c.*188G>T | XP_011508181.1:n.*188G>T | |
| XM_017002056.1:c.*188G>T | XP_016857545.1:n.*188G>T | |
| XM_017002057.1:c.*188G>T | XP_016857546.1:n.*188G>T | |
| NM_022367.4:c.*188G>T MANE Select | NP_071762.2:n.*188G>T | |
| NM_001193300.2:c.*188G>T | NP_001180229.1:n.*188G>T | |
| NM_001370567.1:c.*188G>T | NP_001357496.1:n.*188G>T | |
| NM_001370568.1:c.*188G>T | NP_001357497.1:n.*188G>T | |
| NM_001370569.1:c.*188G>T | NP_001357498.1:n.*188G>T | |
| NM_001370571.1:c.*188G>T | NP_001357500.1:n.*188G>T | |
| NM_001193301.2:c.*188G>T | NP_001180230.1:n.*188G>T | |
| NM_001193302.2:c.*188G>T | NP_001180231.1:n.*188G>T |