Linked Data
ClinVar Variation Id:
1947879
ClinVar RCV Id:
RCV002663653
dbSNP Id:
rs755818283
ExAC:
9:137726882 G / C
gnomAD v2:
9-137726882-G-C
gnomAD v3:
9-134835036-G-C
gnomAD v4:
9-134835036-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835036G>C , CM000671.2:g.134835036G>C | GRCh38 |
| NC_000009.11:g.137726882G>C , CM000671.1:g.137726882G>C | GRCh37 |
| NC_000009.10:g.136866703G>C | NCBI36 |
| NG_008030.1:g.198231G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5202G>C | ENSP00000360885.4:p.Leu1734= | |
| ENST00000371817.8:c.5202G>C MANE Select | ENSP00000360882.3:p.Leu1734= | |
| ENST00000371817.7:c.5202G>C | ENSP00000360882.3:p.Leu1734= | |
| ENST00000371820.3:c.460G>C | ||
| ENST00000618395.4:c.5202G>C | ENSP00000481360.1:p.Leu1734= | |
| NM_000093.4:c.5202G>C | NP_000084.3:p.Leu1734= | |
| NM_001278074.1:c.5202G>C | NP_001265003.1:p.Leu1734= | |
| NR_103451.2:n.71-14827C>G | ||
| XR_929712.1:n.5886G>C | ||
| XR_929713.1:n.5754G>C | ||
| NM_000093.5:c.5202G>C MANE Select | NP_000084.3:p.Leu1734= |