Linked Data
ClinVar Variation Id:
2580478
ClinVar RCV Id:
RCV003329673
dbSNP Id:
rs782514564
ExAC:
19:42482128 C / T
gnomAD v2:
19-42482128-C-T
gnomAD v4:
19-41977976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41977976C>T , CM000681.2:g.41977976C>T | GRCh38 |
| NC_000019.9:g.42482128C>T , CM000681.1:g.42482128C>T | GRCh37 |
| NC_000019.8:g.47173968C>T | NCBI36 |
| NG_008015.1:g.21255G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.1942G>A | ENSP00000444688.1:p.Ala648Thr | |
| ENST00000644613.1:c.1903G>A | ENSP00000494711.1:p.Ala635Thr | |
| ENST00000648268.1:c.1903G>A MANE Select | ENSP00000498113.1:p.Ala635Thr | |
| ENST00000302102.9:c.1903G>A | ENSP00000302397.5:p.Ala635Thr | |
| ENST00000441343.5:c.1903G>A | ENSP00000411503.1:p.Ala635Thr | |
| ENST00000543770.5:c.1936G>A | ENSP00000437577.1:p.Ala646Thr | |
| ENST00000545399.5:c.1942G>A | ENSP00000444688.1:p.Ala648Thr | |
| ENST00000602133.5:c.1813G>A | ENSP00000471581.1:p.Ala605Thr | |
| NM_001256213.1:c.1936G>A | NP_001243142.1:p.Ala646Thr | |
| NM_001256214.1:c.1942G>A | NP_001243143.1:p.Ala648Thr | |
| NM_152296.4:c.1903G>A | NP_689509.1:p.Ala635Thr | |
| XM_011526991.1:c.1813G>A | XP_011525293.1:p.Ala605Thr | |
| NM_152296.5:c.1903G>A MANE Select | NP_689509.1:p.Ala635Thr | |
| NM_001256214.2:c.1942G>A | NP_001243143.1:p.Ala648Thr | |
| NM_001256213.2:c.1936G>A | NP_001243142.1:p.Ala646Thr |