Linked Data
ClinVar Variation Id:
1768956
ClinVar RCV Id:
RCV002383173
dbSNP Id:
rs988419580
gnomAD v4:
5-236452-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236452G>C , CM000667.2:g.236452G>C | GRCh38 |
| NC_000005.9:g.236567G>C , CM000667.1:g.236567G>C | GRCh37 |
| NC_000005.8:g.289567G>C | NCBI36 |
| NG_012339.1:g.23212G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1285G>C MANE Select | ENSP00000264932.6:p.Asp429His | |
| ENST00000651543.1:c.*18G>C | ENSP00000499215.1:n.*18G>C | |
| ENST00000264932.10:c.1285G>C | ENSP00000264932.6:p.Asp429His | |
| ENST00000504309.5:c.1285G>C | ENSP00000426514.1:p.Asp429His | |
| ENST00000505555.5:n.1325G>C | ||
| ENST00000510361.5:c.1141G>C | ENSP00000427703.1:p.Asp381His | |
| ENST00000511810.5:n.2032G>C | ||
| ENST00000512962.5:n.871G>C | ||
| ENST00000514027.5:n.1240G>C | ||
| ENST00000515752.5:n.871G>C | ||
| ENST00000617470.4:c.850G>C | ENSP00000484230.1:p.Asp284His | |
| NM_001294332.1:c.1141G>C | NP_001281261.1:p.Asp381His | |
| NM_004168.3:c.1285G>C | NP_004159.2:p.Asp429His | |
| XM_005248331.2:c.1285G>C | XP_005248388.1:p.Asp429His | |
| XM_011514072.1:c.1285G>C | XP_011512374.1:p.Asp429His | |
| XM_011514073.1:c.1285G>C | XP_011512375.1:p.Asp429His | |
| XR_925638.1:n.1418G>C | ||
| NM_001330758.1:c.1285G>C | NP_001317687.1:p.Asp429His | |
| XM_011514072.2:c.1285G>C | XP_011512374.1:p.Asp429His | |
| XM_011514073.2:c.1285G>C | XP_011512375.1:p.Asp429His | |
| XM_017009685.2:c.1285G>C | XP_016865174.1:p.Asp429His | |
| XM_024446143.1:c.1141G>C | XP_024301911.1:p.Asp381His | |
| XR_002956167.1:n.1332G>C | ||
| NM_004168.4:c.1285G>C MANE Select | NP_004159.2:p.Asp429His | |
| NM_001294332.2:c.1141G>C | NP_001281261.1:p.Asp381His | |
| NM_001330758.2:c.1285G>C | NP_001317687.1:p.Asp429His |