Linked Data
MyVariant Identifiers:
chr19:g.12997931C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887117C>T , CM000681.2:g.12887117C>T | GRCh38 |
| NC_000019.9:g.12997931C>T , CM000681.1:g.12997931C>T | GRCh37 |
| NC_000019.8:g.12858931C>T | NCBI36 |
| NG_009292.1:g.958C>T | |
| NG_013087.1:g.5087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.24G>A MANE Select | ENSP00000264834.3:p.Leu8= | |
| ENST00000264834.4:c.24G>A | ENSP00000264834.3:p.Leu8= | |
| NM_006563.3:c.24G>A | NP_006554.1:p.Leu8= | |
| XM_011527642.1:c.-180G>A | XP_011525944.1:n.-180G>A | |
| NM_006563.4:c.24G>A | NP_006554.1:p.Leu8= | |
| XM_011527642.2:c.-180G>A | XP_011525944.1:n.-180G>A | |
| NM_006563.5:c.24G>A MANE Select | NP_006554.1:p.Leu8= |