Linked Data
ClinVar Variation Id:
312459
ClinVar RCV Id:
RCV000305590
dbSNP Id:
rs202238915
gnomAD v2:
13-78470923-G-A
gnomAD v3:
13-77896788-G-A
gnomAD v4:
13-77896788-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77896788G>A , CM000675.2:g.77896788G>A | GRCh38 |
| NC_000013.10:g.78470923G>A , CM000675.1:g.78470923G>A | GRCh37 |
| NC_000013.9:g.77368924G>A | NCBI36 |
| NG_011630.2:g.83742C>T | |
| NG_011630.3:g.82936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646605.1:c.*1412C>T (EDNRB) | ENSP00000494278.1:n.*1412C>T | |
| ENST00000646607.2:c.*1412C>T (EDNRB) MANE Select | ENSP00000493527.1:n.*1412C>T | |
| ENST00000646948.1:c.*1412C>T (EDNRB) | ENSP00000493895.1:n.*1412C>T | |
| ENST00000334286.7:c.*1412C>T (EDNRB) | ENSP00000335311.5:n.*1412C>T | |
| ENST00000377211.8:c.*1412C>T (EDNRB) | ENSP00000366416.4:n.*1412C>T | |
| ENST00000626030.1:c.1195-230C>T (EDNRB) | ENSP00000486202.1:n.1195-230C>T | |
| NM_000115.3:c.*1412C>T (EDNRB) | NP_000106.1:n.*1412C>T | |
| NM_001122659.2:c.*1412C>T (EDNRB) | NP_001116131.1:n.*1412C>T | |
| NM_001201397.1:c.*1412C>T (EDNRB) | NP_001188326.1:n.*1412C>T | |
| NM_003991.3:c.1195-230C>T (EDNRB) | NP_003982.1:n.1195-230C>T | |
| NR_103853.1:n.1695-10904G>A (EDNRB-AS1) | ||
| XM_011534949.1:c.*1412C>T (EDNRB) | XP_011533251.1:n.*1412C>T | |
| NM_000115.4:c.*1412C>T (EDNRB) | NP_000106.1:n.*1412C>T | |
| NM_001122659.3:c.*1412C>T (EDNRB) MANE Select | NP_001116131.1:n.*1412C>T | |
| NM_000115.5:c.*1412C>T (EDNRB) | NP_000106.1:n.*1412C>T | |
| NM_003991.4:c.1195-230C>T (EDNRB) | NP_003982.1:n.1195-230C>T |