Linked Data
MyVariant Identifiers:
chr5:g.54527497G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231669G>T , CM000667.2:g.55231669G>T | GRCh38 |
| NC_000005.9:g.54527497G>T , CM000667.1:g.54527497G>T | GRCh37 |
| NC_000005.8:g.54563254G>T | NCBI36 |
| NG_034201.1:g.7049C>A | |
| NG_051620.1:g.647C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.759C>A MANE Select | ENSP00000282572.4:p.Ser253= | |
| ENST00000282572.4:c.759C>A | ENSP00000282572.4:p.Ser253= | |
| ENST00000501463.2:c.*739C>A | ENSP00000422485.1:n.*739C>A | |
| NM_021147.4:c.759C>A | NP_066970.3:p.Ser253= | |
| NR_125346.1:n.1329C>A | ||
| NR_125347.1:n.958C>A | ||
| NR_125348.1:n.823C>A | ||
| NM_021147.5:c.759C>A MANE Select | NP_066970.3:p.Ser253= | |
| NR_125346.2:n.1220C>A | ||
| NR_125347.2:n.849C>A |