Linked Data
ClinVar Variation Id:
141974
ClinVar RCV Id:
RCV000130728
RCV000226292
RCV000483048
RCV001194142
RCV000764042
RCV003153422
RCV003149901
dbSNP Id:
rs201657283
ExAC:
16:23619228 C / G
gnomAD v2:
16-23619228-C-G
gnomAD v3:
16-23607907-C-G
gnomAD v4:
16-23607907-C-G
PubMed:
PMID:21285249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607907C>G , CM000678.2:g.23607907C>G | GRCh38 |
| NC_000016.9:g.23619228C>G , CM000678.1:g.23619228C>G | GRCh37 |
| NC_000016.8:g.23526729C>G | NCBI36 |
| NG_007406.1:g.38451G>C , LRG_308:g.38451G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3313G>C | ENSP00000460666.3:p.Val1105Leu | |
| ENST00000565038.2:c.*788G>C | ENSP00000459882.2:n.*788G>C | |
| ENST00000566069.6:c.3202-4238G>C | ENSP00000459237.2:n.3202-4238G>C | |
| ENST00000697377.2:c.3151G>C | ENSP00000513286.2:p.Val1051Leu | |
| ENST00000697379.2:c.3313G>C | ENSP00000513287.2:p.Val1105Leu | |
| ENST00000561514.2:c.2422G>C | ENSP00000460666.2:p.Val808Leu | |
| ENST00000697374.1:c.2422G>C | ENSP00000513284.1:p.Val808Leu | |
| ENST00000697375.1:n.4654G>C | ||
| ENST00000697376.1:c.2317-4238G>C | ENSP00000513285.1:n.2317-4238G>C | |
| ENST00000697377.1:c.2260G>C | ENSP00000513286.1:p.Val754Leu | |
| ENST00000697378.1:n.3827G>C | ||
| ENST00000697379.1:c.2422G>C | ENSP00000513287.1:p.Val808Leu | |
| ENST00000697380.1:n.2511G>C | ||
| ENST00000697381.1:n.2002G>C | ||
| ENST00000697382.1:c.*84G>C | ENSP00000513288.1:n.*84G>C | |
| ENST00000697383.1:c.841G>C | ENSP00000513289.1:p.Val281Leu | |
| ENST00000261584.9:c.3307G>C MANE Select | ENSP00000261584.4:p.Val1103Leu | |
| ENST00000261584.8:c.3307G>C | ENSP00000261584.4:p.Val1103Leu | |
| ENST00000566069.5:c.117-4238G>C | ||
| ENST00000568219.5:c.2422G>C | ENSP00000454703.2:p.Val808Leu | |
| NM_024675.3:c.3307G>C , LRG_308t1:c.3307G>C | NP_078951.2:p.Val1103Leu | |
| XM_011545946.1:c.3313G>C | XP_011544248.1:p.Val1105Leu | |
| XM_011545947.1:c.3208-4238G>C | XP_011544249.1:n.3208-4238G>C | |
| XM_011545948.1:c.2422G>C | XP_011544250.1:p.Val808Leu | |
| XR_950851.1:n.4015G>C | ||
| XM_011545946.2:c.3313G>C | XP_011544248.1:p.Val1105Leu | |
| XM_011545947.2:c.3208-4238G>C | XP_011544249.1:n.3208-4238G>C | |
| XM_011545948.2:c.2422G>C | XP_011544250.1:p.Val808Leu | |
| XM_017023671.1:c.3120-4238G>C | XP_016879160.1:n.3120-4238G>C | |
| XM_017023672.2:c.3114-4238G>C | XP_016879161.1:n.3114-4238G>C | |
| XM_017023673.2:c.3202-4238G>C | XP_016879162.1:n.3202-4238G>C | |
| NM_024675.4:c.3307G>C MANE Select | NP_078951.2:p.Val1103Leu |