Linked Data
ClinVar Variation Id:
2498468
ClinVar RCV Id:
RCV003222677
dbSNP Id:
rs1851656980
gnomAD v4:
10-100988623-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100988623A>C , CM000672.2:g.100988623A>C | GRCh38 |
| NC_000010.10:g.102748380A>C , CM000672.1:g.102748380A>C | GRCh37 |
| NC_000010.9:g.102738370A>C | NCBI36 |
| NG_011646.1:g.3893T>G | |
| NG_012624.1:g.6088A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.413A>C MANE Select | ENSP00000309595.2:p.Glu138Ala | |
| ENST00000370228.2:c.413A>C | ENSP00000359248.1:p.Glu138Ala | |
| ENST00000643860.1:c.413A>C | ENSP00000494389.1:p.Glu138Ala | |
| ENST00000646226.1:n.58+1010A>C | ||
| ENST00000311916.6:c.413A>C | ENSP00000309595.2:p.Glu138Ala | |
| ENST00000370228.1:c.413A>C | ENSP00000359248.1:p.Glu138Ala | |
| ENST00000459764.1:n.86+743A>C | ||
| ENST00000473656.5:n.64+1010A>C | ||
| ENST00000476766.5:n.191+1066A>C | ||
| NM_001163812.1:c.413A>C | NP_001157284.1:p.Glu138Ala | |
| NM_001163813.1:c.-120+1010A>C | NP_001157285.1:n.-120+1010A>C | |
| NM_001163814.1:c.-120+1010A>C | NP_001157286.1:n.-120+1010A>C | |
| NM_021830.4:c.413A>C | NP_068602.2:p.Glu138Ala | |
| XM_011539975.1:c.-58+1010A>C | XP_011538277.1:n.-58+1010A>C | |
| XR_945788.1:n.1246A>C | ||
| XM_011539975.2:c.-58+1010A>C | XP_011538277.1:n.-58+1010A>C | |
| XM_017016437.1:c.-888A>C | XP_016871926.1:n.-888A>C | |
| XR_001747142.1:n.587A>C | ||
| XR_001747144.1:n.587A>C | ||
| XR_002956991.1:n.587A>C | ||
| XR_945788.2:n.587A>C | ||
| NM_021830.5:c.413A>C MANE Select | NP_068602.2:p.Glu138Ala | |
| NM_001163812.2:c.413A>C | NP_001157284.1:p.Glu138Ala | |
| NM_001163813.2:c.-120+1010A>C | NP_001157285.1:n.-120+1010A>C | |
| NM_001163814.2:c.-120+1010A>C | NP_001157286.1:n.-120+1010A>C | |
| NM_001368275.1:c.-58+1010A>C | NP_001355204.1:n.-58+1010A>C | |
| NR_160738.1:n.1081A>C | ||
| NR_160739.1:n.71+1010A>C | ||
| NR_160740.1:n.1081A>C | ||
| NR_160741.1:n.1081A>C | ||
| NR_160742.1:n.1081A>C |