Linked Data
ClinVar Variation Id:
109
ClinVar RCV Id:
RCV003517124
dbSNP Id:
rs121908821
PubMed:
PMID:20154675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254998C>A , CM000664.2:g.96254998C>A | GRCh38 |
| NC_000002.11:g.96920736C>A , CM000664.1:g.96920736C>A | GRCh37 |
| NC_000002.10:g.96284463C>A | NCBI36 |
| NG_027695.1:g.16016G>T , LRG_528:g.16016G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.245-1G>T MANE Select | ENSP00000258439.3:n.245-1G>T | |
| ENST00000258439.7:c.245-1G>T | ENSP00000258439.2:n.245-1G>T | |
| ENST00000432959.1:c.245-1G>T | ENSP00000416660.1:n.245-1G>T | |
| ENST00000435268.1:c.-8-1G>T | ENSP00000411810.1:n.-8-1G>T | |
| NM_001193304.2:c.245-1G>T | NP_001180233.1:n.245-1G>T | |
| NM_017849.3:c.245-1G>T , LRG_528t1:c.245-1G>T | NP_060319.1:n.245-1G>T | |
| XM_017004450.1:c.-674-1G>T | XP_016859939.1:n.-674-1G>T | |
| XM_017004452.1:c.-8-1G>T | XP_016859941.1:n.-8-1G>T | |
| NM_001193304.3:c.245-1G>T | NP_001180233.1:n.245-1G>T | |
| NM_017849.4:c.245-1G>T MANE Select | NP_060319.1:n.245-1G>T |