Linked Data
ClinVar Variation Id:
1905372
ClinVar RCV Id:
RCV003776593
dbSNP Id:
rs975292324
gnomAD v2:
6-32810514-A-G
gnomAD v3:
6-32842737-A-G
gnomAD v4:
6-32842737-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842737A>G , CM000668.2:g.32842737A>G | GRCh38 |
| NC_000006.11:g.32810514A>G , CM000668.1:g.32810514A>G | GRCh37 |
| NC_000006.10:g.32918492A>G | NCBI36 |
| NG_009793.3:g.1034T>C | |
| NG_028165.1:g.7199T>C | |
| NG_009793.4:g.1034T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.521T>C | ||
| ENST00000697612.1:n.1199T>C | ||
| ENST00000374881.3:c.330T>C | ENSP00000364015.2:p.Leu110= | |
| ENST00000374882.8:c.342T>C MANE Select | ENSP00000364016.4:p.Leu114= | |
| ENST00000650411.1:n.1663T>C | ||
| ENST00000650793.1:n.521T>C | ||
| ENST00000374881.2:c.330T>C | ENSP00000364015.2:p.Leu110= | |
| ENST00000374882.7:c.342T>C | ENSP00000364016.3:p.Leu114= | |
| ENST00000395339.7:c.296-26T>C | ENSP00000378748.3:n.296-26T>C | |
| ENST00000484003.1:n.726T>C | ||
| NM_004159.4:c.330T>C | NP_004150.1:p.Leu110= | |
| NM_148919.3:c.342T>C | NP_683720.2:p.Leu114= | |
| NM_148919.4:c.342T>C MANE Select | NP_683720.2:p.Leu114= | |
| NM_004159.5:c.330T>C | NP_004150.1:p.Leu110= |