Linked Data
dbSNP Id:
rs777719468
gnomAD v4:
5-55231705-C-A
MyVariant Identifiers:
chr5:g.54527533C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231705C>A , CM000667.2:g.55231705C>A | GRCh38 |
| NC_000005.9:g.54527533C>A , CM000667.1:g.54527533C>A | GRCh37 |
| NC_000005.8:g.54563290C>A | NCBI36 |
| NG_034201.1:g.7013G>T | |
| NG_051620.1:g.611G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.723G>T MANE Select | ENSP00000282572.4:p.Thr241= | |
| ENST00000282572.4:c.723G>T | ENSP00000282572.4:p.Thr241= | |
| ENST00000501463.2:c.*703G>T | ENSP00000422485.1:n.*703G>T | |
| NM_021147.4:c.723G>T | NP_066970.3:p.Thr241= | |
| NR_125346.1:n.1293G>T | ||
| NR_125347.1:n.922G>T | ||
| NR_125348.1:n.787G>T | ||
| NM_021147.5:c.723G>T MANE Select | NP_066970.3:p.Thr241= | |
| NR_125346.2:n.1184G>T | ||
| NR_125347.2:n.813G>T |