Linked Data
ClinVar Variation Id:
92902
dbSNP Id:
rs77226678
ExAC:
3:33038747 C / G
gnomAD v2:
3-33038747-C-G
gnomAD v3:
3-32997255-C-G
gnomAD v4:
3-32997255-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997255C>G , CM000665.2:g.32997255C>G | GRCh38 |
| NC_000003.11:g.33038747C>G , CM000665.1:g.33038747C>G | GRCh37 |
| NC_000003.10:g.33013751C>G | NCBI36 |
| NG_009005.1:g.104948G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1824G>C MANE Select | ENSP00000306920.4:p.Leu608= | |
| ENST00000307363.9:c.1824G>C | ENSP00000306920.4:p.Leu608= | |
| ENST00000307377.12:c.1431G>C | ENSP00000305920.8:p.Leu477= | |
| ENST00000399402.7:c.1734G>C | ENSP00000382333.2:p.Leu578= | |
| NM_000404.2:c.1824G>C | NP_000395.2:p.Leu608= | |
| NM_000404.3:c.1824G>C | NP_000395.2:p.Leu608= | |
| NM_001079811.1:c.1734G>C | NP_001073279.1:p.Leu578= | |
| NM_001079811.2:c.1734G>C | NP_001073279.1:p.Leu578= | |
| NM_001135602.1:c.1431G>C | NP_001129074.1:p.Leu477= | |
| NM_001135602.2:c.1431G>C | NP_001129074.1:p.Leu477= | |
| NM_001317040.1:c.1968G>C | NP_001303969.1:p.Leu656= | |
| NM_000404.4:c.1824G>C MANE Select | NP_000395.3:p.Leu608= | |
| NM_001079811.3:c.1734G>C | NP_001073279.2:p.Leu578= | |
| NM_001135602.3:c.1431G>C | NP_001129074.2:p.Leu477= | |
| NM_001317040.2:c.1968G>C | NP_001303969.2:p.Leu656= | |
| NM_001393580.1:c.1734+16801G>C | NP_001380509.1:n.1734+16801G>C |