Linked Data
ClinVar Variation Id:
2720780
ClinVar RCV Id:
RCV003596718
dbSNP Id:
rs1239428185
gnomAD v2:
6-32810786-G-A
gnomAD v3:
6-32843009-G-A
gnomAD v4:
6-32843009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843009G>A , CM000668.2:g.32843009G>A | GRCh38 |
| NC_000006.11:g.32810786G>A , CM000668.1:g.32810786G>A | GRCh37 |
| NC_000006.10:g.32918764G>A | NCBI36 |
| NG_009793.3:g.762C>T | |
| NG_028165.1:g.6927C>T | |
| NG_009793.4:g.762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.249C>T | ||
| ENST00000697612.1:n.927C>T | ||
| ENST00000374881.3:c.216C>T | ENSP00000364015.2:p.Leu72= | |
| ENST00000374882.8:c.228C>T MANE Select | ENSP00000364016.4:p.Leu76= | |
| ENST00000650411.1:n.1549C>T | ||
| ENST00000650793.1:n.249C>T | ||
| ENST00000374881.2:c.216C>T | ENSP00000364015.2:p.Leu72= | |
| ENST00000374882.7:c.228C>T | ENSP00000364016.3:p.Leu76= | |
| ENST00000395339.7:c.228C>T | ENSP00000378748.3:p.Leu76= | |
| ENST00000484003.1:n.454C>T | ||
| NM_004159.4:c.216C>T | NP_004150.1:p.Leu72= | |
| NM_148919.3:c.228C>T | NP_683720.2:p.Leu76= | |
| NM_148919.4:c.228C>T MANE Select | NP_683720.2:p.Leu76= | |
| NM_004159.5:c.216C>T | NP_004150.1:p.Leu72= |