Linked Data
MyVariant Identifiers:
chr19:g.41854323T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41348418T>A , CM000681.2:g.41348418T>A | GRCh38 |
| NC_000019.9:g.41854323T>A , CM000681.1:g.41854323T>A | GRCh37 |
| NC_000019.8:g.46546163T>A | NCBI36 |
| NG_013364.1:g.10509A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.393A>T MANE Select | ENSP00000221930.4:p.Ile131= | |
| ENST00000600196.2:c.393A>T | ENSP00000504008.1:p.Ile131= | |
| ENST00000677934.1:c.393A>T | ENSP00000504769.1:p.Ile131= | |
| ENST00000221930.5:c.393A>T | ENSP00000221930.4:p.Ile131= | |
| NM_000660.5:c.393A>T | NP_000651.3:p.Ile131= | |
| XM_011527242.1:c.393A>T | XP_011525544.1:p.Ile131= | |
| NM_000660.6:c.393A>T | NP_000651.3:p.Ile131= | |
| XM_011527242.2:c.393A>T | XP_011525544.1:p.Ile131= | |
| NM_000660.7:c.393A>T MANE Select | NP_000651.3:p.Ile131= |