Linked Data
ClinVar Variation Id:
255140
dbSNP Id:
rs139317762
ExAC:
13:78472425 G / C
gnomAD v2:
13-78472425-G-C
gnomAD v3:
13-77898290-G-C
gnomAD v4:
13-77898290-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77898290G>C , CM000675.2:g.77898290G>C | GRCh38 |
| NC_000013.10:g.78472425G>C , CM000675.1:g.78472425G>C | GRCh37 |
| NC_000013.9:g.77370426G>C | NCBI36 |
| NG_011630.2:g.82240C>G | |
| NG_011630.3:g.81434C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475537.2:c.1239C>G (EDNRB) | ENSP00000487082.2:p.Ser413= | |
| ENST00000645696.1:c.583C>G (EDNRB) | ENSP00000495984.1:n.583C>G | |
| ENST00000646605.1:c.1239C>G (EDNRB) | ENSP00000494278.1:p.Ser413= | |
| ENST00000646607.2:c.1239C>G (EDNRB) MANE Select | ENSP00000493527.1:p.Ser413= | |
| ENST00000646948.1:c.1239C>G (EDNRB) | ENSP00000493895.1:p.Ser413= | |
| ENST00000334286.7:c.1239C>G (EDNRB) | ENSP00000335311.5:p.Ser413= | |
| ENST00000377211.8:c.1509C>G (EDNRB) | ENSP00000366416.4:p.Ser503= | |
| ENST00000626030.1:c.1194+1569C>G (EDNRB) | ENSP00000486202.1:n.1194+1569C>G | |
| NM_000115.3:c.1239C>G (EDNRB) | NP_000106.1:p.Ser413= | |
| NM_001122659.2:c.1239C>G (EDNRB) | NP_001116131.1:p.Ser413= | |
| NM_001201397.1:c.1509C>G (EDNRB) | NP_001188326.1:p.Ser503= | |
| NM_003991.3:c.1194+1569C>G (EDNRB) | NP_003982.1:n.1194+1569C>G | |
| NR_103853.1:n.1695-9402G>C (EDNRB-AS1) | ||
| XM_005266275.2:c.*94C>G (EDNRB) | XP_005266332.2:n.*94C>G | |
| XM_011534949.1:c.1239C>G (EDNRB) | XP_011533251.1:p.Ser413= | |
| NM_000115.4:c.1239C>G (EDNRB) | NP_000106.1:p.Ser413= | |
| NM_001122659.3:c.1239C>G (EDNRB) MANE Select | NP_001116131.1:p.Ser413= | |
| NM_000115.5:c.1239C>G (EDNRB) | NP_000106.1:p.Ser413= | |
| NM_003991.4:c.1194+1569C>G (EDNRB) | NP_003982.1:n.1194+1569C>G |