Linked Data
ClinVar Variation Id:
134819
dbSNP Id:
rs369156948
ExAC:
1:43817942 C / T
gnomAD v2:
1-43817942-C-T
gnomAD v3:
1-43352271-C-T
gnomAD v4:
1-43352271-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43352271C>T , CM000663.2:g.43352271C>T | GRCh38 |
| NC_000001.10:g.43817942C>T , CM000663.1:g.43817942C>T | GRCh37 |
| NC_000001.9:g.43590529C>T | NCBI36 |
| NG_007525.1:g.19468C>T , LRG_510:g.19468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1621C>T MANE Select | ENSP00000361548.3:p.Gln541Ter | |
| ENST00000413998.7:c.1600C>T | ENSP00000414004.3:p.Gln534Ter | |
| ENST00000643351.1:c.279C>T | ||
| ENST00000372470.7:c.1621C>T | ENSP00000361548.3:p.Gln541Ter | |
| NM_005373.2:c.1621C>T , LRG_510t1:c.1621C>T | NP_005364.1:p.Gln541Ter | |
| XM_011541478.1:c.1600C>T | XP_011539780.1:p.Gln534Ter | |
| XM_017001320.1:c.1792C>T | XP_016856809.1:p.Gln598Ter | |
| NM_005373.3:c.1621C>T MANE Select | NP_005364.1:p.Gln541Ter |