Linked Data
ClinVar Variation Id:
432585
dbSNP Id:
rs1555861946
gnomAD v2:
19-42482101-G-C
gnomAD v3:
19-41977949-G-C
gnomAD v4:
19-41977949-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41977949G>C , CM000681.2:g.41977949G>C | GRCh38 |
| NC_000019.9:g.42482101G>C , CM000681.1:g.42482101G>C | GRCh37 |
| NC_000019.8:g.47173941G>C | NCBI36 |
| NG_008015.1:g.21282C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.1969C>G | ENSP00000444688.1:p.Gln657Glu | |
| ENST00000644613.1:c.1930C>G | ENSP00000494711.1:p.Gln644Glu | |
| ENST00000648268.1:c.1930C>G MANE Select | ENSP00000498113.1:p.Gln644Glu | |
| ENST00000302102.9:c.1930C>G | ENSP00000302397.5:p.Gln644Glu | |
| ENST00000441343.5:c.1930C>G | ENSP00000411503.1:p.Gln644Glu | |
| ENST00000543770.5:c.1963C>G | ENSP00000437577.1:p.Gln655Glu | |
| ENST00000545399.5:c.1969C>G | ENSP00000444688.1:p.Gln657Glu | |
| ENST00000602133.5:c.1840C>G | ENSP00000471581.1:p.Gln614Glu | |
| NM_001256213.1:c.1963C>G | NP_001243142.1:p.Gln655Glu | |
| NM_001256214.1:c.1969C>G | NP_001243143.1:p.Gln657Glu | |
| NM_152296.4:c.1930C>G | NP_689509.1:p.Gln644Glu | |
| XM_011526991.1:c.1840C>G | XP_011525293.1:p.Gln614Glu | |
| NM_152296.5:c.1930C>G MANE Select | NP_689509.1:p.Gln644Glu | |
| NM_001256214.2:c.1969C>G | NP_001243143.1:p.Gln657Glu | |
| NM_001256213.2:c.1963C>G | NP_001243142.1:p.Gln655Glu |