Linked Data
ClinVar Variation Id:
1534600
ClinVar RCV Id:
RCV002087728
dbSNP Id:
rs769653284
MyVariant Identifiers:
chr6:g.42932142C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964404C>G , CM000668.2:g.42964404C>G | GRCh38 |
| NC_000006.11:g.42932142C>G , CM000668.1:g.42932142C>G | GRCh37 |
| NC_000006.10:g.43040120C>G | NCBI36 |
| NG_008370.1:g.19840G>C | |
| NG_008396.1:g.8643C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2874G>C MANE Select | ENSP00000303511.8:p.Leu958= | |
| ENST00000244546.4:c.2627G>C | ENSP00000244546.4:n.2627G>C | |
| ENST00000304611.12:c.2874G>C | ENSP00000303511.8:p.Leu958= | |
| NM_000287.3:c.2874G>C | NP_000278.3:p.Leu958= | |
| NM_001316313.1:c.2610G>C | NP_001303242.1:p.Leu870= | |
| NR_133009.1:n.2720G>C | ||
| XM_011514661.1:c.2790G>C | XP_011512963.1:p.Leu930= | |
| XM_011514661.2:c.2790G>C | XP_011512963.1:p.Leu930= | |
| XR_001743466.2:n.3836G>C | ||
| NM_000287.4:c.2874G>C MANE Select | NP_000278.3:p.Leu958= | |
| NM_001316313.2:c.2610G>C | NP_001303242.1:p.Leu870= | |
| NR_133009.2:n.2658G>C |