Linked Data
ClinVar Variation Id:
16639
dbSNP Id:
rs104894390
gnomAD v2:
13-78477335-G-A
gnomAD v4:
13-77903200-G-A
PubMed:
PMID:10528251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77903200G>A , CM000675.2:g.77903200G>A | GRCh38 |
| NC_000013.10:g.78477335G>A , CM000675.1:g.78477335G>A | GRCh37 |
| NC_000013.9:g.77375336G>A | NCBI36 |
| NG_011630.2:g.77330C>T | |
| NG_011630.3:g.76524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475537.2:c.757C>T (EDNRB) | ENSP00000487082.2:p.Arg253Ter | |
| ENST00000643890.1:c.757C>T (EDNRB) | ENSP00000495815.1:p.Arg253Ter | |
| ENST00000645696.1:c.235C>T (EDNRB) | ENSP00000495984.1:p.Arg79Ter | |
| ENST00000646605.1:c.757C>T (EDNRB) | ENSP00000494278.1:p.Arg253Ter | |
| ENST00000646607.2:c.757C>T (EDNRB) MANE Select | ENSP00000493527.1:p.Arg253Ter | |
| ENST00000646948.1:c.757C>T (EDNRB) | ENSP00000493895.1:p.Arg253Ter | |
| ENST00000334286.7:c.757C>T (EDNRB) | ENSP00000335311.5:p.Arg253Ter | |
| ENST00000377211.8:c.1027C>T (EDNRB) | ENSP00000366416.4:p.Arg343Ter | |
| ENST00000626030.1:c.757C>T (EDNRB) | ENSP00000486202.1:p.Arg253Ter | |
| NM_000115.3:c.757C>T (EDNRB) | NP_000106.1:p.Arg253Ter | |
| NM_001122659.2:c.757C>T (EDNRB) | NP_001116131.1:p.Arg253Ter | |
| NM_001201397.1:c.1027C>T (EDNRB) | NP_001188326.1:p.Arg343Ter | |
| NM_003991.3:c.757C>T (EDNRB) | NP_003982.1:p.Arg253Ter | |
| NR_103853.1:n.1695-4492G>A (EDNRB-AS1) | ||
| XM_005266275.2:c.757C>T (EDNRB) | XP_005266332.2:p.Arg253Ter | |
| XM_011534949.1:c.757C>T (EDNRB) | XP_011533251.1:p.Arg253Ter | |
| NM_000115.4:c.757C>T (EDNRB) | NP_000106.1:p.Arg253Ter | |
| NM_001122659.3:c.757C>T (EDNRB) MANE Select | NP_001116131.1:p.Arg253Ter | |
| NM_000115.5:c.757C>T (EDNRB) | NP_000106.1:p.Arg253Ter | |
| NM_003991.4:c.757C>T (EDNRB) | NP_003982.1:p.Arg253Ter |