Linked Data
ClinVar Variation Id:
699927
ClinVar RCV Id:
RCV000867914
dbSNP Id:
rs143797324
ExAC:
19:42489121 G / A
gnomAD v4:
19-41984969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41984969G>A , CM000681.2:g.41984969G>A | GRCh38 |
| NC_000019.9:g.42489121G>A , CM000681.1:g.42489121G>A | GRCh37 |
| NC_000019.8:g.47180961G>A | NCBI36 |
| NG_008015.1:g.14262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.981C>T | ENSP00000444688.1:p.Leu327= | |
| ENST00000644613.1:c.942C>T | ENSP00000494711.1:p.Leu314= | |
| ENST00000648268.1:c.942C>T MANE Select | ENSP00000498113.1:p.Leu314= | |
| ENST00000302102.9:c.942C>T | ENSP00000302397.5:p.Leu314= | |
| ENST00000441343.5:c.942C>T | ENSP00000411503.1:p.Leu314= | |
| ENST00000485672.2:n.255C>T | ||
| ENST00000543770.5:c.975C>T | ENSP00000437577.1:p.Leu325= | |
| ENST00000545399.5:c.981C>T | ENSP00000444688.1:p.Leu327= | |
| ENST00000602133.5:c.852C>T | ENSP00000471581.1:p.Leu284= | |
| NM_001256213.1:c.975C>T | NP_001243142.1:p.Leu325= | |
| NM_001256214.1:c.981C>T | NP_001243143.1:p.Leu327= | |
| NM_152296.4:c.942C>T | NP_689509.1:p.Leu314= | |
| XM_011526991.1:c.852C>T | XP_011525293.1:p.Leu284= | |
| NM_152296.5:c.942C>T MANE Select | NP_689509.1:p.Leu314= | |
| NM_001256214.2:c.981C>T | NP_001243143.1:p.Leu327= | |
| NM_001256213.2:c.975C>T | NP_001243142.1:p.Leu325= |