Linked Data
gnomAD v4:
8-38148436-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148436A>G , CM000670.2:g.38148436A>G | GRCh38 |
| NC_000008.10:g.38005954A>G , CM000670.1:g.38005954A>G | GRCh37 |
| NC_000008.9:g.38125111A>G | NCBI36 |
| NG_011827.1:g.7647T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.179-109T>C MANE Select | ENSP00000276449.3:n.179-109T>C | |
| ENST00000276449.8:c.179-109T>C | ENSP00000276449.3:n.179-109T>C | |
| ENST00000520114.1:n.557T>C | ||
| ENST00000521236.1:c.-100-77T>C | ENSP00000430030.1:n.-100-77T>C | |
| ENST00000522050.1:c.115-109T>C | ||
| NM_000349.2:c.179-109T>C | NP_000340.2:n.179-109T>C | |
| XM_006716392.1:c.179-109T>C | XP_006716455.1:n.179-109T>C | |
| NM_000349.3:c.179-109T>C MANE Select | NP_000340.2:n.179-109T>C |