Linked Data
ClinVar Variation Id:
438163
dbSNP Id:
rs780667159
ExAC:
14:21796628 C / T
gnomAD v2:
14-21796628-C-T
gnomAD v4:
14-21328469-C-T
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21328469C>T , CM000676.2:g.21328469C>T | GRCh38 |
| NC_000014.8:g.21796628C>T , CM000676.1:g.21796628C>T | GRCh37 |
| NC_000014.7:g.20866468C>T | NCBI36 |
| NG_008933.1:g.45493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2941C>T MANE Select | ENSP00000382895.2:p.Arg981Ter | |
| ENST00000382933.8:c.919C>T | ENSP00000372391.4:p.Arg307Ter | |
| ENST00000400017.6:c.2941C>T | ENSP00000382895.2:p.Arg981Ter | |
| ENST00000553927.1:n.1873C>T | ||
| ENST00000555322.5:c.1368C>T | ||
| ENST00000555489.5:c.1134C>T | ENSP00000451044.1:n.1134C>T | |
| ENST00000555587.5:c.1366C>T | ENSP00000451262.1:p.Arg456Ter | |
| ENST00000556336.5:c.1912C>T | ENSP00000450445.1:p.Arg638Ter | |
| ENST00000557771.5:c.2827C>T | ENSP00000451219.1:p.Arg943Ter | |
| NM_020366.3:c.2941C>T | NP_065099.3:p.Arg981Ter | |
| XM_005267879.2:c.1867C>T | XP_005267936.1:p.Arg623Ter | |
| XM_005267880.2:c.1834C>T | XP_005267937.1:p.Arg612Ter | |
| XM_005267881.2:c.1315C>T | XP_005267938.1:p.Arg439Ter | |
| XM_011536978.1:c.1867C>T | XP_011535280.1:p.Arg623Ter | |
| XM_011536979.1:c.1651C>T | XP_011535281.1:p.Arg551Ter | |
| XM_011536980.1:c.1522C>T | XP_011535282.1:p.Arg508Ter | |
| XM_011536981.1:c.1372C>T | XP_011535283.1:p.Arg458Ter | |
| XM_011536982.1:c.1027C>T | XP_011535284.1:p.Arg343Ter | |
| XM_011536983.1:c.2908C>T | XP_011535285.1:p.Arg970Ter | |
| XM_005267881.3:c.1315C>T | XP_005267938.1:p.Arg439Ter | |
| XM_017021473.1:c.1372C>T | XP_016876962.1:p.Arg458Ter | |
| XM_024449663.1:c.1867C>T | XP_024305431.1:p.Arg623Ter | |
| XM_024449664.1:c.1372C>T | XP_024305432.1:p.Arg458Ter | |
| XM_024449665.1:c.1027C>T | XP_024305433.1:p.Arg343Ter | |
| XM_024449666.1:c.1027C>T | XP_024305434.1:p.Arg343Ter | |
| NM_001377523.1:c.919C>T | NP_001364452.1:p.Arg307Ter | |
| NM_001377948.1:c.1867C>T | NP_001364877.1:p.Arg623Ter | |
| NM_001377949.1:c.1027C>T | NP_001364878.1:p.Arg343Ter | |
| NM_001377950.1:c.919C>T | NP_001364879.1:p.Arg307Ter | |
| NM_001377951.1:c.421C>T | NP_001364880.1:p.Arg141Ter | |
| NM_020366.4:c.2941C>T MANE Select | NP_065099.3:p.Arg981Ter |