Linked Data
ClinVar Variation Id:
334705
dbSNP Id:
rs72969704
ExAC:
2:227875202 A / G
gnomAD v2:
2-227875202-A-G
gnomAD v3:
2-227010486-A-G
gnomAD v4:
2-227010486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227010486A>G , CM000664.2:g.227010486A>G | GRCh38 |
| NC_000002.11:g.227875202A>G , CM000664.1:g.227875202A>G | GRCh37 |
| NC_000002.10:g.227583446A>G | NCBI36 |
| NG_011592.1:g.159074T>C , LRG_231:g.159074T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682098.1:c.16T>C | ENSP00000508331.1:p.Leu6= | |
| ENST00000396625.5:c.4349T>C MANE Select | ENSP00000379866.3:p.Ile1450Thr | |
| ENST00000396625.3:c.4349T>C | ENSP00000379866.3:p.Ile1450Thr | |
| NM_000092.4:c.4349T>C , LRG_231t1:c.4349T>C | NP_000083.3:p.Ile1450Thr | |
| XM_005246281.2:c.4349T>C | XP_005246338.1:p.Ile1450Thr | |
| XM_005246282.2:c.3794T>C | XP_005246339.1:p.Ile1265Thr | |
| XM_006712246.2:c.4333+1695T>C | XP_006712309.1:n.4333+1695T>C | |
| XM_006712249.2:c.4349T>C | XP_006712312.1:p.Ile1450Thr | |
| XM_006712252.2:c.4216+11562T>C | XP_006712315.1:n.4216+11562T>C | |
| XM_011510557.1:c.4268T>C | XP_011508859.1:p.Ile1423Thr | |
| XM_011510558.1:c.4241T>C | XP_011508860.1:p.Ile1414Thr | |
| XM_011510559.1:c.4349T>C | XP_011508861.1:p.Ile1450Thr | |
| XM_011510560.1:c.4349T>C | XP_011508862.1:p.Ile1450Thr | |
| XM_011510561.1:c.4349T>C | XP_011508863.1:p.Ile1450Thr | |
| XM_011510562.1:c.4349T>C | XP_011508864.1:p.Ile1450Thr | |
| XM_011510563.1:c.4333+1695T>C | XP_011508865.1:n.4333+1695T>C | |
| XM_011510564.1:c.4217-2247T>C | XP_011508866.1:n.4217-2247T>C | |
| XM_011510565.1:c.4216+11562T>C | XP_011508867.1:n.4216+11562T>C | |
| XM_011510566.1:c.4216+11562T>C | XP_011508868.1:n.4216+11562T>C | |
| XM_011510567.1:c.4216+11562T>C | XP_011508869.1:n.4216+11562T>C | |
| XM_011510569.1:c.4216+11562T>C | XP_011508871.1:n.4216+11562T>C | |
| XM_011510570.1:c.4216+11562T>C | XP_011508872.1:n.4216+11562T>C | |
| XM_011510571.1:c.4216+11562T>C | XP_011508873.1:n.4216+11562T>C | |
| XM_011510572.1:c.2675T>C | XP_011508874.1:p.Ile892Thr | |
| XR_922837.1:n.4659T>C | ||
| XR_922838.1:n.4659T>C | ||
| XR_922839.1:n.4526+11562T>C | ||
| XR_922840.1:n.4526+11562T>C | ||
| XM_005246281.3:c.4349T>C | XP_005246338.1:p.Ile1450Thr | |
| XM_005246282.3:c.3794T>C | XP_005246339.1:p.Ile1265Thr | |
| XM_006712246.3:c.4333+1695T>C | XP_006712309.1:n.4333+1695T>C | |
| XM_011510557.2:c.4268T>C | XP_011508859.1:p.Ile1423Thr | |
| XM_011510558.2:c.4241T>C | XP_011508860.1:p.Ile1414Thr | |
| XM_011510559.2:c.4349T>C | XP_011508861.1:p.Ile1450Thr | |
| XM_011510560.2:c.4349T>C | XP_011508862.1:p.Ile1450Thr | |
| XM_011510561.2:c.4349T>C | XP_011508863.1:p.Ile1450Thr | |
| XM_011510562.2:c.4349T>C | XP_011508864.1:p.Ile1450Thr | |
| XM_011510565.2:c.4216+11562T>C | XP_011508867.1:n.4216+11562T>C | |
| XM_011510566.2:c.4216+11562T>C | XP_011508868.1:n.4216+11562T>C | |
| XM_011510567.2:c.4216+11562T>C | XP_011508869.1:n.4216+11562T>C | |
| XM_011510569.2:c.4216+11562T>C | XP_011508871.1:n.4216+11562T>C | |
| XM_011510570.2:c.4216+11562T>C | XP_011508872.1:n.4216+11562T>C | |
| XM_011510572.3:c.2675T>C | XP_011508874.1:p.Ile892Thr | |
| XM_017003296.1:c.4349T>C | XP_016858785.1:p.Ile1450Thr | |
| XM_017003297.1:c.4232T>C | XP_016858786.1:p.Ile1411Thr | |
| XM_017003298.1:c.4349T>C | XP_016858787.1:p.Ile1450Thr | |
| XM_017003299.1:c.4349T>C | XP_016858788.1:p.Ile1450Thr | |
| XM_017003300.1:c.4216+11562T>C | XP_016858789.1:n.4216+11562T>C | |
| XR_001738602.1:n.4675T>C | ||
| XR_001738603.1:n.4675T>C | ||
| XR_001738604.1:n.4659+1695T>C | ||
| XR_001738606.1:n.4542+11562T>C | ||
| XR_001738607.1:n.4542+11562T>C | ||
| XR_922837.2:n.4675T>C | ||
| NM_000092.5:c.4349T>C MANE Select | NP_000083.3:p.Ile1450Thr |