Linked Data
gnomAD v4:
5-1213515-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213515T>A , CM000667.2:g.1213515T>A | GRCh38 |
| NC_000005.9:g.1213630T>A , CM000667.1:g.1213630T>A | GRCh37 |
| NC_000005.8:g.1266630T>A | NCBI36 |
| NG_008282.1:g.16921T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.716T>A MANE Select | ENSP00000305302.10:p.Ile239Asn | |
| ENST00000304460.10:c.716T>A | ENSP00000305302.10:p.Ile239Asn | |
| ENST00000515652.5:c.624T>A | ENSP00000425701.1:p.His208Gln | |
| NM_001003841.2:c.716T>A | NP_001003841.1:p.Ile239Asn | |
| NM_001003841.3:c.716T>A MANE Select | NP_001003841.1:p.Ile239Asn |