Linked Data
ClinVar Variation Id:
1601553
ClinVar RCV Id:
RCV002136883
dbSNP Id:
rs375594671
ExAC:
22:50518328 G / A
gnomAD v2:
22-50518328-G-A
gnomAD v3:
22-50079899-G-A
gnomAD v4:
22-50079899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50079899G>A , CM000684.2:g.50079899G>A | GRCh38 |
| NC_000022.10:g.50518328G>A , CM000684.1:g.50518328G>A | GRCh37 |
| NC_000022.9:g.48860455G>A | NCBI36 |
| NG_009162.1:g.11031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311597.10:c.423+19C>T MANE Select | ENSP00000310375.6:n.423+19C>T | |
| ENST00000311597.9:c.423+19C>T | ENSP00000310375.5:n.423+19C>T | |
| ENST00000395876.6:c.423+19C>T | ENSP00000379216.2:n.423+19C>T | |
| ENST00000442311.1:c.333+19C>T | ENSP00000401385.1:n.333+19C>T | |
| NM_015166.3:c.423+19C>T | NP_055981.1:n.423+19C>T | |
| NM_139202.2:c.423+19C>T | NP_631941.1:n.423+19C>T | |
| XM_011530678.1:c.423+19C>T | XP_011528980.1:n.423+19C>T | |
| XR_430476.2:n.818+19C>T | ||
| XM_011530678.2:c.423+19C>T | XP_011528980.1:n.423+19C>T | |
| XM_017028671.1:c.423+19C>T | XP_016884160.1:n.423+19C>T | |
| XR_001755180.2:n.928+19C>T | ||
| XR_001755181.2:n.696+19C>T | ||
| NM_001376472.1:c.423+19C>T | NP_001363401.1:n.423+19C>T | |
| NM_001376473.1:c.423+19C>T | NP_001363402.1:n.423+19C>T | |
| NM_001376474.1:c.423+19C>T | NP_001363403.1:n.423+19C>T | |
| NM_001376475.1:c.423+19C>T | NP_001363404.1:n.423+19C>T | |
| NM_001376476.1:c.423+19C>T | NP_001363405.1:n.423+19C>T | |
| NM_001376477.1:c.423+19C>T | NP_001363406.1:n.423+19C>T | |
| NM_001376478.1:c.423+19C>T | NP_001363407.1:n.423+19C>T | |
| NM_001376479.1:c.423+19C>T | NP_001363408.1:n.423+19C>T | |
| NM_001376480.1:c.333+19C>T | NP_001363409.1:n.333+19C>T | |
| NM_001376481.1:c.321+445C>T | NP_001363410.1:n.321+445C>T | |
| NM_001376482.1:c.268-2397C>T | NP_001363411.1:n.268-2397C>T | |
| NM_001376483.1:c.268-2397C>T | NP_001363412.1:n.268-2397C>T | |
| NM_001376484.1:c.186+19C>T | NP_001363413.1:n.186+19C>T | |
| NM_015166.4:c.423+19C>T MANE Select | NP_055981.1:n.423+19C>T | |
| NM_139202.3:c.423+19C>T | NP_631941.1:n.423+19C>T | |
| NR_164811.1:n.770+19C>T | ||
| NR_164812.1:n.554+19C>T | ||
| NR_164813.1:n.947+19C>T |