Linked Data
MyVariant Identifiers:
chr6:g.49426862G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459149G>T , CM000668.2:g.49459149G>T | GRCh38 |
| NC_000006.11:g.49426862G>T , CM000668.1:g.49426862G>T | GRCh37 |
| NC_000006.10:g.49534821G>T | NCBI36 |
| NG_007100.1:g.8991C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.318C>A MANE Select | ENSP00000274813.3:p.Thr106= | |
| ENST00000274813.3:c.318C>A | ENSP00000274813.3:p.Thr106= | |
| NM_000255.3:c.318C>A | NP_000246.2:p.Thr106= | |
| XM_005249143.2:c.318C>A | XP_005249200.1:p.Thr106= | |
| XM_005249143.3:c.318C>A | XP_005249200.1:p.Thr106= | |
| NM_000255.4:c.318C>A MANE Select | NP_000246.2:p.Thr106= |