Linked Data
ClinVar Variation Id:
1758774
ClinVar RCV Id:
RCV002384915
dbSNP Id:
rs1289463245
gnomAD v2:
5-6620294-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6620181G>T , CM000667.2:g.6620181G>T | GRCh38 |
| NC_000005.9:g.6620294G>T , CM000667.1:g.6620294G>T | GRCh37 |
| NC_000005.8:g.6673294G>T | NCBI36 |
| NG_028215.1:g.18180C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264670.11:c.740C>A MANE Select | ENSP00000264670.6:p.Pro247His | |
| ENST00000264670.10:c.740C>A | ENSP00000264670.6:p.Pro247His | |
| ENST00000504374.5:c.*46C>A | ENSP00000421783.1:n.*46C>A | |
| ENST00000505264.1:n.407C>A | ||
| ENST00000505892.5:n.1309C>A | ||
| ENST00000506139.5:c.635C>A | ENSP00000420957.1:p.Pro212His | |
| NM_001193455.1:c.635C>A | NP_001180384.1:p.Pro212His | |
| NM_017755.5:c.740C>A | NP_060225.4:p.Pro247His | |
| NR_037947.1:n.1036C>A | ||
| NM_017755.6:c.740C>A MANE Select | NP_060225.4:p.Pro247His | |
| NM_001193455.2:c.635C>A | NP_001180384.1:p.Pro212His | |
| NR_037947.2:n.720C>A |