Linked Data
ClinVar Variation Id:
31676
ClinVar RCV Id:
RCV000024356
dbSNP Id:
rs387907191
PubMed:
PMID:22541559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6611067G>A , CM000667.2:g.6611067G>A | GRCh38 |
| NC_000005.9:g.6611180G>A , CM000667.1:g.6611180G>A | GRCh37 |
| NC_000005.8:g.6664180G>A | NCBI36 |
| NG_028215.1:g.27294C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264670.11:c.1114C>T MANE Select | ENSP00000264670.6:p.Gln372Ter | |
| ENST00000264670.10:c.1114C>T | ENSP00000264670.6:p.Gln372Ter | |
| ENST00000504374.5:c.*420C>T | ENSP00000421783.1:n.*420C>T | |
| ENST00000505892.5:n.1683C>T | ||
| ENST00000506139.5:c.1009C>T | ENSP00000420957.1:p.Gln337Ter | |
| NM_001193455.1:c.1009C>T | NP_001180384.1:p.Gln337Ter | |
| NM_017755.5:c.1114C>T | NP_060225.4:p.Gln372Ter | |
| NR_037947.1:n.1410C>T | ||
| NM_017755.6:c.1114C>T MANE Select | NP_060225.4:p.Gln372Ter | |
| NM_001193455.2:c.1009C>T | NP_001180384.1:p.Gln337Ter | |
| NR_037947.2:n.1094C>T |