Linked Data
dbSNP Id:
rs144312383
ExAC:
17:61574300 T / C
gnomAD v2:
17-61574300-T-C
gnomAD v3:
17-63496939-T-C
gnomAD v4:
17-63496939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496939T>C , CM000679.2:g.63496939T>C | GRCh38 |
| NC_000017.10:g.61574300T>C , CM000679.1:g.61574300T>C | GRCh37 |
| NC_000017.9:g.58928032T>C | NCBI36 |
| NG_011648.1:g.24867T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3645T>C MANE Select | ENSP00000290866.4:p.His1215= | |
| ENST00000290863.10:c.1923T>C | ENSP00000290863.6:p.His641= | |
| ENST00000290866.9:c.3645T>C | ENSP00000290866.4:p.His1215= | |
| ENST00000413513.7:c.1800T>C | ENSP00000392247.3:p.His600= | |
| ENST00000428043.5:c.3645T>C | ENSP00000397593.2:p.His1215= | |
| ENST00000577418.5:n.655T>C | ||
| ENST00000577647.2:c.1923T>C | ENSP00000464149.1:p.His641= | |
| ENST00000578839.5:c.*1400T>C | ENSP00000462110.2:n.*1400T>C | |
| ENST00000579314.5:c.*1374T>C | ENSP00000462599.1:n.*1374T>C | |
| ENST00000579409.1:c.332T>C | ||
| ENST00000582244.1:n.519T>C | ||
| NM_000789.3:c.3645T>C | NP_000780.1:p.His1215= | |
| NM_001178057.1:c.1800T>C | NP_001171528.1:p.His600= | |
| NM_152830.2:c.1923T>C | NP_690043.1:p.His641= | |
| XM_005257110.1:c.3096T>C | XP_005257167.1:p.His1032= | |
| XM_006721737.2:c.1983T>C | XP_006721800.2:p.His661= | |
| XM_006721737.3:c.1983T>C | XP_006721800.2:p.His661= | |
| NM_000789.4:c.3645T>C MANE Select | NP_000780.1:p.His1215= | |
| NM_001178057.2:c.1800T>C | NP_001171528.1:p.His600= | |
| NM_152830.3:c.1923T>C | NP_690043.1:p.His641= | |
| NM_001382700.1:c.3078T>C | NP_001369629.1:p.His1026= | |
| NM_001382701.1:c.2793T>C | NP_001369630.1:p.His931= | |
| NM_001382702.1:c.1260T>C | NP_001369631.1:p.His420= | |
| NR_168483.1:n.2023T>C |