Linked Data
ClinVar Variation Id:
381684
dbSNP Id:
rs752175052
ExAC:
14:21813304 C / T
gnomAD v2:
14-21813304-C-T
gnomAD v3:
14-21345145-C-T
gnomAD v4:
14-21345145-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21345145C>T , CM000676.2:g.21345145C>T | GRCh38 |
| NC_000014.8:g.21813304C>T , CM000676.1:g.21813304C>T | GRCh37 |
| NC_000014.7:g.20883144C>T | NCBI36 |
| NG_008933.1:g.62169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.3565C>T MANE Select | ENSP00000382895.2:p.Arg1189Ter | |
| ENST00000382933.8:c.1543C>T | ENSP00000372391.4:p.Arg515Ter | |
| ENST00000400017.6:c.3565C>T | ENSP00000382895.2:p.Arg1189Ter | |
| ENST00000553927.1:n.2497C>T | ||
| ENST00000555322.5:c.1992C>T | ||
| ENST00000555489.5:c.1758C>T | ENSP00000451044.1:n.1758C>T | |
| ENST00000555587.5:c.1990C>T | ENSP00000451262.1:p.Arg664Ter | |
| ENST00000556336.5:c.2536C>T | ENSP00000450445.1:p.Arg846Ter | |
| ENST00000557771.5:c.3451C>T | ENSP00000451219.1:p.Arg1151Ter | |
| NM_020366.3:c.3565C>T | NP_065099.3:p.Arg1189Ter | |
| XM_005267879.2:c.2494C>T | XP_005267936.1:p.Arg832Ter | |
| XM_005267880.2:c.2461C>T | XP_005267937.1:p.Arg821Ter | |
| XM_005267881.2:c.1942C>T | XP_005267938.1:p.Arg648Ter | |
| XM_011536978.1:c.2491C>T | XP_011535280.1:p.Arg831Ter | |
| XM_011536979.1:c.2278C>T | XP_011535281.1:p.Arg760Ter | |
| XM_011536980.1:c.2149C>T | XP_011535282.1:p.Arg717Ter | |
| XM_011536981.1:c.1999C>T | XP_011535283.1:p.Arg667Ter | |
| XM_011536982.1:c.1654C>T | XP_011535284.1:p.Arg552Ter | |
| XM_011536983.1:c.3532C>T | XP_011535285.1:p.Arg1178Ter | |
| XM_005267881.3:c.1942C>T | XP_005267938.1:p.Arg648Ter | |
| XM_017021473.1:c.1996C>T | XP_016876962.1:p.Arg666Ter | |
| XM_024449663.1:c.2488C>T | XP_024305431.1:p.Arg830Ter | |
| XM_024449664.1:c.1993C>T | XP_024305432.1:p.Arg665Ter | |
| XM_024449665.1:c.1651C>T | XP_024305433.1:p.Arg551Ter | |
| XM_024449666.1:c.1648C>T | XP_024305434.1:p.Arg550Ter | |
| NM_001377523.1:c.1543C>T | NP_001364452.1:p.Arg515Ter | |
| NM_001377948.1:c.2491C>T | NP_001364877.1:p.Arg831Ter | |
| NM_001377949.1:c.1651C>T | NP_001364878.1:p.Arg551Ter | |
| NM_001377950.1:c.1543C>T | NP_001364879.1:p.Arg515Ter | |
| NM_001377951.1:c.1048C>T | NP_001364880.1:p.Arg350Ter | |
| NM_020366.4:c.3565C>T MANE Select | NP_065099.3:p.Arg1189Ter |