Linked Data
gnomAD v4:
9-101421431-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421431C>A , CM000671.2:g.101421431C>A | GRCh38 |
| NC_000009.11:g.104183713C>A , CM000671.1:g.104183713C>A | GRCh37 |
| NC_000009.10:g.103223534C>A | NCBI36 |
| NG_012387.1:g.19350G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.*378G>T MANE Select | ENSP00000497767.1:n.*378G>T | |
| ENST00000374855.8:c.*378G>T | ENSP00000363988.4:n.*378G>T | |
| NM_000035.3:c.*378G>T | NP_000026.2:n.*378G>T | |
| NM_000035.4:c.*378G>T MANE Select | NP_000026.2:n.*378G>T |