Linked Data
gnomAD v4:
8-38144232-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144232A>G , CM000670.2:g.38144232A>G | GRCh38 |
| NC_000008.10:g.38001750A>G , CM000670.1:g.38001750A>G | GRCh37 |
| NC_000008.9:g.38120907A>G | NCBI36 |
| NG_011827.1:g.11851T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*41T>C MANE Select | ENSP00000276449.3:n.*41T>C | |
| ENST00000276449.8:c.*41T>C | ENSP00000276449.3:n.*41T>C | |
| ENST00000520114.1:n.2868T>C | ||
| ENST00000522050.1:c.741T>C | ||
| NM_000349.2:c.*41T>C | NP_000340.2:n.*41T>C | |
| XM_006716392.1:c.805T>C | XP_006716455.1:p.Tyr269His | |
| NM_000349.3:c.*41T>C MANE Select | NP_000340.2:n.*41T>C |