Linked Data
dbSNP Id:
rs990945782
gnomAD v2:
17-61575349-C-T
gnomAD v3:
17-63497988-C-T
gnomAD v4:
17-63497988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497988C>T , CM000679.2:g.63497988C>T | GRCh38 |
| NC_000017.10:g.61575349C>T , CM000679.1:g.61575349C>T | GRCh37 |
| NC_000017.9:g.58929081C>T | NCBI36 |
| NG_011648.1:g.25916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.*622C>T MANE Select | ENSP00000290866.4:n.*622C>T | |
| ENST00000290866.9:c.*622C>T | ENSP00000290866.4:n.*622C>T | |
| ENST00000428043.5:c.*965C>T | ENSP00000397593.2:n.*965C>T | |
| ENST00000577647.2:c.1969+1003C>T | ENSP00000464149.1:n.1969+1003C>T | |
| NM_000789.3:c.*622C>T | NP_000780.1:n.*622C>T | |
| NM_001178057.1:c.*622C>T | NP_001171528.1:n.*622C>T | |
| NM_152830.2:c.*622C>T | NP_690043.1:n.*622C>T | |
| XM_005257110.1:c.*622C>T | XP_005257167.1:n.*622C>T | |
| XM_006721737.2:c.*622C>T | XP_006721800.2:n.*622C>T | |
| NM_000789.4:c.*622C>T MANE Select | NP_000780.1:n.*622C>T | |
| NM_001178057.2:c.*622C>T | NP_001171528.1:n.*622C>T | |
| NM_152830.3:c.*622C>T | NP_690043.1:n.*622C>T | |
| NM_001382700.1:c.*622C>T | NP_001369629.1:n.*622C>T | |
| NM_001382701.1:c.*622C>T | NP_001369630.1:n.*622C>T | |
| NM_001382702.1:c.*622C>T | NP_001369631.1:n.*622C>T | |
| NR_168483.1:n.2921C>T |