Linked Data
ClinVar Variation Id:
342087
ClinVar RCV Id:
RCV000325587
dbSNP Id:
rs11704648
gnomAD v2:
22-50499021-A-C
gnomAD v3:
22-50060592-A-C
gnomAD v4:
22-50060592-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50060592A>C , CM000684.2:g.50060592A>C | GRCh38 |
| NC_000022.10:g.50499021A>C , CM000684.1:g.50499021A>C | GRCh37 |
| NC_000022.9:g.48841148A>C | NCBI36 |
| NG_009162.1:g.30338T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311597.10:c.*991T>G MANE Select | ENSP00000310375.6:n.*991T>G | |
| ENST00000311597.9:c.*991T>G | ENSP00000310375.5:n.*991T>G | |
| ENST00000395876.6:c.*991T>G | ENSP00000379216.2:n.*991T>G | |
| NM_015166.3:c.*991T>G | NP_055981.1:n.*991T>G | |
| NM_139202.2:c.*991T>G | NP_631941.1:n.*991T>G | |
| XM_011530678.1:c.*991T>G | XP_011528980.1:n.*991T>G | |
| XR_430476.2:n.2469T>G | ||
| XM_011530678.2:c.*991T>G | XP_011528980.1:n.*991T>G | |
| XM_017028671.1:c.*991T>G | XP_016884160.1:n.*991T>G | |
| XR_001755180.2:n.1770-440T>G | ||
| XR_001755181.2:n.1538-440T>G | ||
| NM_001376472.1:c.*991T>G | NP_001363401.1:n.*991T>G | |
| NM_001376473.1:c.*991T>G | NP_001363402.1:n.*991T>G | |
| NM_001376474.1:c.*991T>G | NP_001363403.1:n.*991T>G | |
| NM_001376475.1:c.*991T>G | NP_001363404.1:n.*991T>G | |
| NM_001376476.1:c.*991T>G | NP_001363405.1:n.*991T>G | |
| NM_001376477.1:c.*46-440T>G | NP_001363406.1:n.*46-440T>G | |
| NM_001376478.1:c.*46-440T>G | NP_001363407.1:n.*46-440T>G | |
| NM_001376479.1:c.*991T>G | NP_001363408.1:n.*991T>G | |
| NM_001376480.1:c.*991T>G | NP_001363409.1:n.*991T>G | |
| NM_001376481.1:c.*991T>G | NP_001363410.1:n.*991T>G | |
| NM_001376482.1:c.*991T>G | NP_001363411.1:n.*991T>G | |
| NM_001376483.1:c.*991T>G | NP_001363412.1:n.*991T>G | |
| NM_001376484.1:c.*991T>G | NP_001363413.1:n.*991T>G | |
| NM_015166.4:c.*991T>G MANE Select | NP_055981.1:n.*991T>G | |
| NM_139202.3:c.*991T>G | NP_631941.1:n.*991T>G | |
| NR_164811.1:n.1612-440T>G | ||
| NR_164812.1:n.1396-392T>G | ||
| NR_164813.1:n.1789-440T>G |