Linked Data
ClinVar Variation Id:
4702
ClinVar RCV Id:
RCV000004967
dbSNP Id:
rs121908155
ExAC:
1:155112463 A / G
gnomAD v2:
1-155112463-A-G
gnomAD v4:
1-155139987-A-G
PubMed:
PMID:19576565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155139987A>G , CM000663.2:g.155139987A>G | GRCh38 |
| NC_000001.10:g.155112463A>G , CM000663.1:g.155112463A>G | GRCh37 |
| NC_000001.9:g.153379087A>G | NCBI36 |
| NG_012871.1:g.5534T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368400.5:c.254T>C MANE Select | ENSP00000357385.5:p.Leu85Ser | |
| ENST00000341298.3:c.254T>C | ENSP00000344338.3:p.Leu85Ser | |
| ENST00000368399.1:c.344T>C | ENSP00000357384.1:p.Leu115Ser | |
| ENST00000368400.4:c.254T>C | ENSP00000357385.4:p.Leu85Ser | |
| NM_018973.3:c.344T>C | NP_061846.2:p.Leu115Ser | |
| NM_153741.1:c.254T>C | NP_714963.1:p.Leu85Ser | |
| XM_017001498.1:c.254T>C | XP_016856987.1:p.Leu85Ser | |
| NM_153741.2:c.254T>C MANE Select | NP_714963.1:p.Leu85Ser | |
| NM_018973.4:c.344T>C | NP_061846.2:p.Leu115Ser |