Linked Data
dbSNP Id:
rs760018219
ExAC:
19:39421124 C / G
gnomAD v2:
19-39421124-C-G
gnomAD v4:
19-38930484-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38930484C>G , CM000681.2:g.38930484C>G | GRCh38 |
| NC_000019.9:g.39421124C>G , CM000681.1:g.39421124C>G | GRCh37 |
| NC_000019.8:g.44112964C>G | NCBI36 |
| NG_029222.1:g.4777C>G | |
| NG_031865.1:g.5413G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221431.11:c.253G>C MANE Select | ENSP00000221431.6:p.Asp85His | |
| ENST00000221431.10:c.253G>C | ENSP00000221431.5:p.Asp85His | |
| ENST00000430193.7:c.253G>C | ENSP00000406754.3:p.Asp85His | |
| ENST00000455102.6:c.253G>C | ENSP00000414954.2:p.Asp85His | |
| ENST00000593754.1:c.253G>C | ENSP00000471767.1:p.Asp85His | |
| ENST00000598343.5:c.253G>C | ENSP00000472576.1:p.Asp85His | |
| ENST00000598598.5:n.280G>C | ||
| ENST00000599996.1:c.476-4184G>C | ||
| ENST00000600042.5:c.253G>C | ENSP00000472847.1:p.Asp85His | |
| NM_001145901.1:c.253G>C | NP_001139373.1:p.Asp85His | |
| NM_017827.3:c.253G>C | NP_060297.1:p.Asp85His | |
| NM_001145901.2:c.253G>C | NP_001139373.1:p.Asp85His | |
| NM_017827.4:c.253G>C MANE Select | NP_060297.1:p.Asp85His |