Linked Data
ClinVar Variation Id:
2000
dbSNP Id:
rs121434352
ExAC:
17:73836398 G / A
gnomAD v2:
17-73836398-G-A
gnomAD v3:
17-75840317-G-A
gnomAD v4:
17-75840317-G-A
PubMed:
PMID:14622600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75840317G>A , CM000679.2:g.75840317G>A | GRCh38 |
| NC_000017.10:g.73836398G>A , CM000679.1:g.73836398G>A | GRCh37 |
| NC_000017.9:g.71347993G>A | NCBI36 |
| NG_007266.1:g.9401C>T , LRG_122:g.9401C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587504.6:c.747C>T | ENSP00000514388.1:p.Ala249= | |
| ENST00000592386.6:c.748C>T | ENSP00000466826.2:p.Arg250Ter | |
| ENST00000207549.9:c.766C>T MANE Select | ENSP00000207549.3:p.Arg256Ter | |
| ENST00000207549.8:c.766C>T | ENSP00000207549.3:p.Arg256Ter | |
| ENST00000412096.6:c.766C>T | ENSP00000388093.1:p.Arg256Ter | |
| ENST00000586147.1:c.117+3904C>T | ENSP00000466543.1:n.117+3904C>T | |
| ENST00000587504.5:n.769C>T | ||
| ENST00000590762.5:c.709C>T | ENSP00000467653.1:p.Arg237Ter | |
| ENST00000591563.5:n.847C>T | ||
| ENST00000592386.5:c.745C>T | ENSP00000466826.1:p.Arg249Ter | |
| NM_199242.2:c.766C>T , LRG_122t1:c.766C>T | NP_954712.1:p.Arg256Ter | |
| XM_011524504.1:c.766C>T | XP_011522806.1:p.Arg256Ter | |
| XM_011524505.1:c.766C>T | XP_011522807.1:p.Arg256Ter | |
| XM_011524506.1:c.766C>T | XP_011522808.1:p.Arg256Ter | |
| XM_011524507.1:c.157C>T | XP_011522809.1:p.Arg53Ter | |
| XM_011524508.1:c.157C>T | XP_011522810.1:p.Arg53Ter | |
| XM_011524504.2:c.766C>T | XP_011522806.1:p.Arg256Ter | |
| XM_011524507.2:c.157C>T | XP_011522809.1:p.Arg53Ter | |
| XM_024450640.1:c.157C>T | XP_024306408.1:p.Arg53Ter | |
| NM_199242.3:c.766C>T MANE Select | NP_954712.1:p.Arg256Ter |