Linked Data
dbSNP Id:
rs778793803
ExAC:
5:54529401 G / A
gnomAD v2:
5-54529401-G-A
gnomAD v3:
5-55233573-G-A
gnomAD v4:
5-55233573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233573G>A , CM000667.2:g.55233573G>A | GRCh38 |
| NC_000005.9:g.54529401G>A , CM000667.1:g.54529401G>A | GRCh37 |
| NC_000005.8:g.54565158G>A | NCBI36 |
| NG_034201.1:g.5145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.-50C>T MANE Select | ENSP00000282572.4:n.-50C>T | |
| ENST00000282572.4:c.-50C>T | ENSP00000282572.4:n.-50C>T | |
| ENST00000501463.2:c.-50C>T | ENSP00000422485.1:n.-50C>T | |
| NM_021147.4:c.-50C>T | NP_066970.3:n.-50C>T | |
| NR_125346.1:n.145C>T | ||
| NR_125347.1:n.145C>T | ||
| NM_021147.5:c.-50C>T MANE Select | NP_066970.3:n.-50C>T | |
| NR_125346.2:n.36C>T | ||
| NR_125347.2:n.36C>T |