Linked Data
dbSNP Id:
rs771376102
ExAC:
19:39421123 T / G
gnomAD v2:
19-39421123-T-G
gnomAD v4:
19-38930483-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38930483T>G , CM000681.2:g.38930483T>G | GRCh38 |
| NC_000019.9:g.39421123T>G , CM000681.1:g.39421123T>G | GRCh37 |
| NC_000019.8:g.44112963T>G | NCBI36 |
| NG_029222.1:g.4776T>G | |
| NG_031865.1:g.5414A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221431.11:c.254A>C MANE Select | ENSP00000221431.6:p.Asp85Ala | |
| ENST00000221431.10:c.254A>C | ENSP00000221431.5:p.Asp85Ala | |
| ENST00000430193.7:c.254A>C | ENSP00000406754.3:p.Asp85Ala | |
| ENST00000455102.6:c.254A>C | ENSP00000414954.2:p.Asp85Ala | |
| ENST00000593754.1:c.254A>C | ENSP00000471767.1:p.Asp85Ala | |
| ENST00000598343.5:c.254A>C | ENSP00000472576.1:p.Asp85Ala | |
| ENST00000598598.5:n.281A>C | ||
| ENST00000599996.1:c.476-4183A>C | ||
| ENST00000600042.5:c.254A>C | ENSP00000472847.1:p.Asp85Ala | |
| NM_001145901.1:c.254A>C | NP_001139373.1:p.Asp85Ala | |
| NM_017827.3:c.254A>C | NP_060297.1:p.Asp85Ala | |
| NM_001145901.2:c.254A>C | NP_001139373.1:p.Asp85Ala | |
| NM_017827.4:c.254A>C MANE Select | NP_060297.1:p.Asp85Ala |