Linked Data
gnomAD v4:
19-4816246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816246G>A , CM000681.2:g.4816246G>A | GRCh38 |
| NC_000019.9:g.4816258G>A , CM000681.1:g.4816258G>A | GRCh37 |
| NC_000019.8:g.4767258G>A | NCBI36 |
| NG_031998.1:g.20497C>T , LRG_358:g.20497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2132C>T MANE Select | ENSP00000248244.4:p.Ala711Val | |
| ENST00000248244.5:c.2132C>T | ENSP00000248244.4:p.Ala711Val | |
| ENST00000621756.1:c.1634C>T | ENSP00000479467.1:p.Ala545Val | |
| NM_182919.3:c.2132C>T , LRG_358t1:c.2132C>T | NP_891549.1:p.Ala711Val | |
| NM_001385678.1:c.2090C>T | NP_001372607.1:p.Ala697Val | |
| NM_001385679.1:c.1997C>T | NP_001372608.1:p.Ala666Val | |
| NM_001385680.1:c.1490C>T | NP_001372609.1:p.Ala497Val | |
| NM_182919.4:c.2132C>T MANE Select | NP_891549.1:p.Ala711Val |