Linked Data
ClinVar Variation Id:
241553
dbSNP Id:
rs45464500
ExAC:
16:23634446 A / G
gnomAD v2:
16:23634446 A / G
PubMed:
PMID:17200668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623125A>G , CM000678.2:g.23623125A>G | GRCh38 |
| NC_000016.9:g.23634446A>G , CM000678.1:g.23634446A>G | GRCh37 |
| NC_000016.8:g.23541947A>G | NCBI36 |
| NG_007406.1:g.23233T>C , LRG_308:g.23233T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261584.9:c.2840T>C MANE Select | ENSP00000261584.4:p.Leu947Ser | |
| ENST00000261584.8:c.2840T>C | ENSP00000261584.4:p.Leu947Ser | |
| ENST00000568219.5:c.1955T>C | ENSP00000454703.2:p.Leu652Ser | |
| NM_024675.3:c.2840T>C , LRG_308t1:c.2840T>C | NP_078951.2:p.Leu947Ser | |
| XM_011545946.1:c.2846T>C | XP_011544248.1:p.Leu949Ser | |
| XM_011545947.1:c.2846T>C | XP_011544249.1:p.Leu949Ser | |
| XM_011545948.1:c.1955T>C | XP_011544250.1:p.Leu652Ser | |
| XR_950851.1:n.3636T>C | ||
| XM_011545946.2:c.2846T>C | XP_011544248.1:p.Leu949Ser | |
| XM_011545947.2:c.2846T>C | XP_011544249.1:p.Leu949Ser | |
| XM_011545948.2:c.1955T>C | XP_011544250.1:p.Leu652Ser | |
| XM_017023671.1:c.2846T>C | XP_016879160.1:p.Leu949Ser | |
| XM_017023672.2:c.2840T>C | XP_016879161.1:p.Leu947Ser | |
| XM_017023673.2:c.2840T>C | XP_016879162.1:p.Leu947Ser | |
| NM_024675.4:c.2840T>C MANE Select | NP_078951.2:p.Leu947Ser |