Linked Data
ClinVar Variation Id:
2076375
ClinVar RCV Id:
RCV002972284
dbSNP Id:
rs763530229
ExAC:
22:19754135 G / A
gnomAD v2:
22-19754135-G-A
gnomAD v4:
22-19766612-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19766612G>A , CM000684.2:g.19766612G>A | GRCh38 |
| NC_000022.10:g.19754135G>A , CM000684.1:g.19754135G>A | GRCh37 |
| NC_000022.9:g.18134135G>A | NCBI36 |
| NG_009229.1:g.14910G>A , LRG_226:g.14910G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649276.2:c.1260G>A MANE Select | ENSP00000497003.1:p.Leu420= | |
| ENST00000329705.11:c.1009+610G>A | ENSP00000331176.7:n.1009+610G>A | |
| ENST00000332710.8:c.1233G>A | ENSP00000331791.4:p.Leu411= | |
| ENST00000359500.7:c.1009+610G>A | ENSP00000352483.3:n.1009+610G>A | |
| ENST00000621939.1:c.1009+610G>A | ENSP00000477982.1:n.1009+610G>A | |
| NM_005992.1:c.1009+610G>A | NP_005983.1:n.1009+610G>A | |
| NM_080646.1:c.1009+610G>A | NP_542377.1:n.1009+610G>A | |
| NM_080647.1:c.1233G>A , LRG_226t1:c.1233G>A | NP_542378.1:p.Leu411= | |
| XM_006724312.1:c.1233G>A | XP_006724375.1:p.Leu411= | |
| XM_011530351.1:c.1260G>A | XP_011528653.1:p.Leu420= | |
| XM_006724312.2:c.1233G>A | XP_006724375.1:p.Leu411= | |
| XM_017028925.1:c.1383G>A | XP_016884414.1:p.Leu461= | |
| XM_017028926.1:c.1233G>A | XP_016884415.1:p.Leu411= | |
| XM_017028927.1:c.588G>A | XP_016884416.1:p.Leu196= | |
| XM_017028928.1:c.1159+610G>A | XP_016884417.1:n.1159+610G>A | |
| NM_001379200.1:c.1260G>A MANE Select | NP_001366129.1:p.Leu420= | |
| NM_080646.2:c.1009+610G>A | NP_542377.1:n.1009+610G>A |