Linked Data
MyVariant Identifiers:
chr19:g.7594037G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529151G>C , CM000681.2:g.7529151G>C | GRCh38 |
| NC_000019.9:g.7594037G>C , CM000681.1:g.7594037G>C | GRCh37 |
| NC_000019.8:g.7500037G>C | NCBI36 |
| NG_015806.1:g.11542G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1185G>C MANE Select | ENSP00000264079.5:p.Leu395= | |
| ENST00000264079.10:c.1185G>C | ENSP00000264079.5:p.Leu395= | |
| ENST00000394321.9:n.1500G>C | ||
| ENST00000594692.1:n.181G>C | ||
| ENST00000595860.5:n.368G>C | ||
| ENST00000599334.1:c.62G>C | ||
| NM_020533.2:c.1185G>C | NP_065394.1:p.Leu395= | |
| NM_020533.3:c.1185G>C MANE Select | NP_065394.1:p.Leu395= |