Linked Data
ClinVar Variation Id:
128748
dbSNP Id:
rs6089898
ExAC:
20:61992494 C / G
gnomAD v2:
20-61992494-C-G
gnomAD v3:
20-63361142-C-G
gnomAD v4:
20-63361142-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63361142C>G , CM000682.2:g.63361142C>G | GRCh38 |
| NC_000020.10:g.61992494C>G , CM000682.1:g.61992494C>G | GRCh37 |
| NC_000020.9:g.61462938C>G | NCBI36 |
| NG_011931.1:g.5202G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.24G>C MANE Select | ENSP00000359285.4:p.Ala8= | |
| ENST00000675470.1:c.24G>C | ENSP00000502096.1:p.Ala8= | |
| ENST00000370263.8:c.24G>C | ENSP00000359285.4:p.Ala8= | |
| ENST00000463705.5:n.1032-10115G>C | ||
| ENST00000467563.3:n.128+35G>C | ||
| ENST00000615287.4:c.-290G>C | ENSP00000483388.1:n.-290G>C | |
| ENST00000627000.1:c.24G>C | ENSP00000486914.1:p.Ala8= | |
| ENST00000628606.1:n.24G>C | ||
| ENST00000628665.1:n.49G>C | ||
| NM_000744.6:c.24G>C | NP_000735.1:p.Ala8= | |
| NM_001256573.1:c.-471+35G>C | NP_001243502.1:n.-471+35G>C | |
| NR_046317.1:n.255G>C | ||
| NR_110634.1:n.183-676C>G | ||
| XM_017027625.2:c.-470-1443G>C | XP_016883114.1:n.-470-1443G>C | |
| NM_001256573.2:c.-471+35G>C | NP_001243502.1:n.-471+35G>C | |
| NR_046317.2:n.208G>C | ||
| NM_000744.7:c.24G>C MANE Select | NP_000735.1:p.Ala8= |