Linked Data
gnomAD v4:
12-4911819-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911819G>T , CM000674.2:g.4911819G>T | GRCh38 |
| NC_000012.11:g.5020985G>T , CM000674.1:g.5020985G>T | GRCh37 |
| NC_000012.10:g.4891246G>T | NCBI36 |
| NG_011815.1:g.6913G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.441G>T MANE Select | ENSP00000371985.3:p.Lys147Asn | |
| ENST00000543874.3:n.105+1347G>T | ||
| ENST00000639306.1:c.279G>T | ENSP00000492506.1:p.Lys93Asn | |
| ENST00000382545.3:c.441G>T | ENSP00000371985.3:p.Lys147Asn | |
| ENST00000541095.1:n.105+1347G>T | ||
| ENST00000543874.2:n.96+1347G>T | ||
| NM_000217.2:c.441G>T | NP_000208.2:p.Lys147Asn | |
| NM_000217.3:c.441G>T MANE Select | NP_000208.2:p.Lys147Asn |