Linked Data
ClinVar Variation Id:
16036
ClinVar RCV Id:
RCV000030920
dbSNP Id:
rs104893847
PubMed:
PMID:15240592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740508G>A , CM000666.2:g.67740508G>A | GRCh38 |
| NC_000004.11:g.68606226G>A , CM000666.1:g.68606226G>A | GRCh37 |
| NC_000004.10:g.68288821G>A | NCBI36 |
| NG_009293.1:g.20579C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226413.5:c.959C>T MANE Select | ENSP00000226413.5:p.Pro320Leu | |
| ENST00000226413.4:c.959C>T | ENSP00000226413.4:p.Pro320Leu | |
| ENST00000420975.2:c.831C>T | ENSP00000397561.2:n.831C>T | |
| NM_000406.2:c.959C>T | NP_000397.1:p.Pro320Leu | |
| NM_001012763.1:c.*81C>T | NP_001012781.1:n.*81C>T | |
| NM_000406.3:c.959C>T MANE Select | NP_000397.1:p.Pro320Leu | |
| NM_001012763.2:c.*81C>T | NP_001012781.1:n.*81C>T |