Linked Data
ClinVar Variation Id:
1656414
ClinVar RCV Id:
RCV002161766
dbSNP Id:
rs1460643071
gnomAD v2:
19-44012163-G-A
gnomAD v3:
19-43508011-G-A
gnomAD v4:
19-43508011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43508011G>A , CM000681.2:g.43508011G>A | GRCh38 |
| NC_000019.9:g.44012163G>A , CM000681.1:g.44012163G>A | GRCh37 |
| NC_000019.8:g.48704003G>A | NCBI36 |
| NG_008141.1:g.24234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.645C>T MANE Select | ENSP00000292147.1:p.Leu215= | |
| ENST00000292147.6:c.645C>T | ENSP00000292147.1:p.Leu215= | |
| ENST00000594342.5:c.*208C>T | ENSP00000469652.1:n.*208C>T | |
| ENST00000598330.1:c.*208C>T | ENSP00000469219.1:n.*208C>T | |
| ENST00000600651.5:c.645C>T | ENSP00000469037.1:p.Leu215= | |
| NM_014297.3:c.645C>T | NP_055112.2:p.Leu215= | |
| XM_005258687.2:c.564C>T | XP_005258744.1:p.Leu188= | |
| XM_005258688.2:c.276C>T | XP_005258745.1:p.Leu92= | |
| XM_011526685.1:c.366C>T | XP_011524987.1:p.Leu122= | |
| NM_001320867.1:c.612C>T | NP_001307796.1:p.Leu204= | |
| NM_001320868.1:c.276C>T | NP_001307797.1:p.Leu92= | |
| NM_001320869.1:c.351C>T | NP_001307798.1:p.Leu117= | |
| NM_014297.4:c.645C>T | NP_055112.2:p.Leu215= | |
| XM_005258687.4:c.564C>T | XP_005258744.1:p.Leu188= | |
| NM_014297.5:c.645C>T MANE Select | NP_055112.2:p.Leu215= | |
| NM_001320867.2:c.612C>T | NP_001307796.1:p.Leu204= | |
| NM_001320868.2:c.276C>T | NP_001307797.1:p.Leu92= | |
| NM_001320869.2:c.351C>T | NP_001307798.1:p.Leu117= |