Linked Data
gnomAD v4:
10-103086454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086454A>G , CM000672.2:g.103086454A>G | GRCh38 |
| NC_000010.10:g.104846211A>G , CM000672.1:g.104846211A>G | GRCh37 |
| NC_000010.9:g.104836201A>G | NCBI36 |
| NG_042272.1:g.111853T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9274A>G MANE Select | ENSP00000358894.3:n.*9274A>G | |
| ENST00000369878.8:c.*9274A>G | ENSP00000358894.3:n.*9274A>G | |
| XR_001747118.1:n.12155A>G | ||
| XR_001747121.1:n.12119A>G | ||
| NM_017649.5:c.*9274A>G MANE Select | NP_060119.3:n.*9274A>G | |
| NM_199076.3:c.*9274A>G | NP_951058.1:n.*9274A>G |