Linked Data
gnomAD v4:
6-1613179-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1613179T>C , CM000668.2:g.1613179T>C | GRCh38 |
| NC_000006.11:g.1613414T>C , CM000668.1:g.1613414T>C | GRCh37 |
| NC_000006.10:g.1558413T>C | NCBI36 |
| NG_009368.1:g.7734T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*1072T>C MANE Select | ENSP00000493906.1:n.*1072T>C | |
| ENST00000380874.3:c.*1072T>C | ENSP00000370256.2:n.*1072T>C | |
| NM_001453.2:c.2734T>C | NP_001444.2:n.2734T>C | |
| NM_001453.3:c.*1072T>C MANE Select | NP_001444.2:n.*1072T>C |