Linked Data
ClinVar Variation Id:
330535
dbSNP Id:
rs577065342
ExAC:
19:7623830 G / C
gnomAD v2:
19-7623830-G-C
gnomAD v3:
19-7558944-G-C
gnomAD v4:
19-7558944-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7558944G>C , CM000681.2:g.7558944G>C | GRCh38 |
| NC_000019.9:g.7623830G>C , CM000681.1:g.7623830G>C | GRCh37 |
| NC_000019.8:g.7529830G>C | NCBI36 |
| NG_013374.1:g.29793G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3492G>C MANE Select | ENSP00000473211.1:p.Leu1164= | |
| ENST00000646984.1:c.663G>C | ENSP00000496219.1:p.Leu221= | |
| ENST00000221249.10:c.3378G>C | ENSP00000221249.5:p.Leu1126= | |
| ENST00000414982.7:c.3522G>C | ENSP00000407509.2:p.Leu1174= | |
| ENST00000450331.7:c.3378G>C | ENSP00000394348.2:p.Leu1126= | |
| ENST00000545201.6:c.3297G>C | ENSP00000443323.1:p.Leu1099= | |
| ENST00000600737.5:c.3492G>C | ENSP00000473211.1:p.Leu1164= | |
| NM_001166111.1:c.3522G>C | NP_001159583.1:p.Leu1174= | |
| NM_001166112.1:c.3297G>C | NP_001159584.1:p.Leu1099= | |
| NM_001166113.1:c.3378G>C | NP_001159585.1:p.Leu1126= | |
| NM_001166114.1:c.3492G>C | NP_001159586.1:p.Leu1164= | |
| NM_006702.4:c.3378G>C | NP_006693.3:p.Leu1126= | |
| NM_001166111.2:c.3522G>C | NP_001159583.1:p.Leu1174= | |
| NM_001166114.2:c.3492G>C MANE Select | NP_001159586.1:p.Leu1164= | |
| NM_006702.5:c.3378G>C | NP_006693.3:p.Leu1126= | |
| NM_001166112.2:c.3297G>C | NP_001159584.1:p.Leu1099= |