Linked Data
ClinVar Variation Id:
417740
ClinVar RCV Id:
RCV000477736
dbSNP Id:
rs1060505026
gnomAD v2:
6-57059568-C-G
gnomAD v4:
6-57194770-C-G
PubMed:
PMID:25168863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57194770C>G , CM000668.2:g.57194770C>G | GRCh38 |
| NC_000006.11:g.57059568C>G , CM000668.1:g.57059568C>G | GRCh37 |
| NC_000006.10:g.57167527C>G | NCBI36 |
| NG_012170.1:g.32511G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000468148.6:c.481G>C MANE Select | ENSP00000417610.1:p.Val161Leu | |
| ENST00000317483.4:c.481G>C | ENSP00000320413.3:p.Val161Leu | |
| ENST00000468148.5:c.481G>C | ENSP00000417610.1:p.Val161Leu | |
| NM_001278666.1:c.481G>C | NP_001265595.1:p.Val161Leu | |
| NM_001278667.1:c.481G>C | NP_001265596.1:p.Val161Leu | |
| NM_001278668.1:c.481G>C | NP_001265597.1:p.Val161Leu | |
| NM_016277.4:c.481G>C | NP_057361.3:p.Val161Leu | |
| NM_183227.2:c.481G>C | NP_899050.1:p.Val161Leu | |
| NR_103822.1:n.341-836G>C | ||
| XM_005249179.2:c.399-836G>C | XP_005249236.1:n.399-836G>C | |
| NM_016277.5:c.481G>C MANE Select | NP_057361.3:p.Val161Leu | |
| NM_001278666.2:c.481G>C | NP_001265595.1:p.Val161Leu | |
| NM_001278667.2:c.481G>C | NP_001265596.1:p.Val161Leu | |
| NM_001278668.2:c.481G>C | NP_001265597.1:p.Val161Leu | |
| NM_183227.3:c.481G>C | NP_899050.1:p.Val161Leu | |
| NR_103822.2:n.334-836G>C |