Linked Data
gnomAD v4:
14-75009093-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009093A>C , CM000676.2:g.75009093A>C | GRCh38 |
| NC_000014.8:g.75475796A>C , CM000676.1:g.75475796A>C | GRCh37 |
| NC_000014.7:g.74545549A>C | NCBI36 |
| NG_013333.1:g.11185A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.961A>C MANE Select | ENSP00000266126.5:p.Ile321Leu | |
| ENST00000266126.9:c.961A>C | ENSP00000266126.5:p.Ile321Leu | |
| ENST00000556668.1:n.541A>C | ||
| NM_014239.3:c.961A>C | NP_055054.1:p.Ile321Leu | |
| NM_014239.4:c.961A>C MANE Select | NP_055054.1:p.Ile321Leu |