Linked Data
dbSNP Id:
rs748246753
ExAC:
17:61566081 A / C
gnomAD v2:
17-61566081-A-C
gnomAD v3:
17-63488720-A-C
gnomAD v4:
17-63488720-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488720A>C , CM000679.2:g.63488720A>C | GRCh38 |
| NC_000017.10:g.61566081A>C , CM000679.1:g.61566081A>C | GRCh37 |
| NC_000017.9:g.58919813A>C | NCBI36 |
| NG_011648.1:g.16648A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2378A>C MANE Select | ENSP00000290866.4:p.Lys793Thr | |
| ENST00000290863.10:c.656A>C | ENSP00000290863.6:p.Lys219Thr | |
| ENST00000290866.9:c.2378A>C | ENSP00000290866.4:p.Lys793Thr | |
| ENST00000413513.7:c.656A>C | ENSP00000392247.3:p.Lys219Thr | |
| ENST00000428043.5:c.2378A>C | ENSP00000397593.2:p.Lys793Thr | |
| ENST00000577647.2:c.656A>C | ENSP00000464149.1:p.Lys219Thr | |
| ENST00000578839.5:c.*448A>C | ENSP00000462110.2:n.*448A>C | |
| ENST00000579204.1:c.637A>C | ENSP00000464629.1:n.637A>C | |
| ENST00000579314.5:c.*107A>C | ENSP00000462599.1:n.*107A>C | |
| ENST00000582005.5:c.*298A>C | ENSP00000462002.1:n.*298A>C | |
| ENST00000582761.1:c.146A>C | ENSP00000462909.1:p.Lys49Thr | |
| ENST00000584865.5:n.324A>C | ||
| NM_000789.3:c.2378A>C | NP_000780.1:p.Lys793Thr | |
| NM_001178057.1:c.656A>C | NP_001171528.1:p.Lys219Thr | |
| NM_152830.2:c.656A>C | NP_690043.1:p.Lys219Thr | |
| XM_005257110.1:c.1829A>C | XP_005257167.1:p.Lys610Thr | |
| XM_006721737.2:c.716A>C | XP_006721800.2:p.Lys239Thr | |
| XM_006721737.3:c.716A>C | XP_006721800.2:p.Lys239Thr | |
| NM_000789.4:c.2378A>C MANE Select | NP_000780.1:p.Lys793Thr | |
| NM_001178057.2:c.656A>C | NP_001171528.1:p.Lys219Thr | |
| NM_152830.3:c.656A>C | NP_690043.1:p.Lys219Thr | |
| NM_001382700.1:c.1811A>C | NP_001369629.1:p.Lys604Thr | |
| NM_001382701.1:c.1526A>C | NP_001369630.1:p.Lys509Thr | |
| NM_001382702.1:c.308A>C | NP_001369631.1:p.Lys103Thr | |
| NR_168483.1:n.756A>C |