Linked Data
ClinVar Variation Id:
2131392
ClinVar RCV Id:
RCV003761471
MyVariant Identifiers:
chr6:g.32810786G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843009G>C , CM000668.2:g.32843009G>C | GRCh38 |
| NC_000006.11:g.32810786G>C , CM000668.1:g.32810786G>C | GRCh37 |
| NC_000006.10:g.32918764G>C | NCBI36 |
| NG_009793.3:g.762C>G | |
| NG_028165.1:g.6927C>G | |
| NG_009793.4:g.762C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.249C>G | ||
| ENST00000697612.1:n.927C>G | ||
| ENST00000374881.3:c.216C>G | ENSP00000364015.2:p.Leu72= | |
| ENST00000374882.8:c.228C>G MANE Select | ENSP00000364016.4:p.Leu76= | |
| ENST00000650411.1:n.1549C>G | ||
| ENST00000650793.1:n.249C>G | ||
| ENST00000374881.2:c.216C>G | ENSP00000364015.2:p.Leu72= | |
| ENST00000374882.7:c.228C>G | ENSP00000364016.3:p.Leu76= | |
| ENST00000395339.7:c.228C>G | ENSP00000378748.3:p.Leu76= | |
| ENST00000484003.1:n.454C>G | ||
| NM_004159.4:c.216C>G | NP_004150.1:p.Leu72= | |
| NM_148919.3:c.228C>G | NP_683720.2:p.Leu76= | |
| NM_148919.4:c.228C>G MANE Select | NP_683720.2:p.Leu76= | |
| NM_004159.5:c.216C>G | NP_004150.1:p.Leu72= |