Linked Data
ClinVar Variation Id:
2145115
ClinVar RCV Id:
RCV003064862
dbSNP Id:
rs758336306
ExAC:
8:42958950 G / C
gnomAD v2:
8-42958950-G-C
gnomAD v4:
8-43103807-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43103807G>C , CM000670.2:g.43103807G>C | GRCh38 |
| NC_000008.10:g.42958950G>C , CM000670.1:g.42958950G>C | GRCh37 |
| NC_000008.9:g.43078107G>C | NCBI36 |
| NG_033235.1:g.15302G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.259G>C MANE Select | ENSP00000331258.5:p.Val87Leu | |
| ENST00000518991.6:c.259G>C | ENSP00000429090.2:p.Val87Leu | |
| ENST00000614426.2:c.259G>C | ENSP00000478821.2:p.Val87Leu | |
| ENST00000674727.1:n.517G>C | ||
| ENST00000674782.1:c.259G>C | ENSP00000501683.1:p.Val87Leu | |
| ENST00000674820.1:c.259G>C | ENSP00000502636.1:p.Val87Leu | |
| ENST00000674937.1:c.240+19G>C | ENSP00000501823.1:n.240+19G>C | |
| ENST00000675129.1:c.259G>C | ENSP00000501906.1:p.Val87Leu | |
| ENST00000676178.1:c.259G>C | ENSP00000502007.1:p.Val87Leu | |
| ENST00000676193.1:c.259G>C | ENSP00000502774.1:p.Val87Leu | |
| ENST00000331373.9:c.259G>C | ENSP00000331258.5:p.Val87Leu | |
| ENST00000518991.5:c.259G>C | ENSP00000429090.1:p.Val87Leu | |
| ENST00000614426.1:c.259G>C | ENSP00000478821.1:p.Val87Leu | |
| NM_001277971.1:c.259G>C | NP_001264900.1:p.Val87Leu | |
| NM_032237.4:c.259G>C | NP_115613.1:p.Val87Leu | |
| XM_011544668.1:c.259G>C | XP_011542970.1:p.Val87Leu | |
| XM_011544669.1:c.259G>C | XP_011542971.1:p.Val87Leu | |
| NM_032237.5:c.259G>C MANE Select | NP_115613.1:p.Val87Leu | |
| NM_001277971.2:c.259G>C | NP_001264900.1:p.Val87Leu |