Linked Data
ClinVar Variation Id:
210207
dbSNP Id:
rs147738731
ExAC:
7:99704485 G / A
gnomAD v2:
7-99704485-G-A
gnomAD v3:
7-100106862-G-A
gnomAD v4:
7-100106862-G-A
COSMIC:
COSM1093967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100106862G>A , CM000669.2:g.100106862G>A | GRCh38 |
| NC_000007.13:g.99704485G>A , CM000669.1:g.99704485G>A | GRCh37 |
| NC_000007.12:g.99542421G>A | NCBI36 |
| NG_016312.1:g.10356G>A | |
| NG_029454.1:g.17997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.1219G>A | ENSP00000393723.2:p.Ala407Thr | |
| ENST00000495154.2:n.1601G>A | ||
| ENST00000713591.1:c.1342G>A | ENSP00000518888.1:p.Ala448Thr | |
| ENST00000359593.9:c.1342G>A MANE Select | ENSP00000352603.4:p.Ala448Thr | |
| ENST00000359593.8:c.1342G>A | ENSP00000352603.4:p.Ala448Thr | |
| ENST00000416938.5:c.1231G>A | ||
| ENST00000421755.5:c.1342G>A | ENSP00000412185.1:p.Ala448Thr | |
| ENST00000422582.5:c.958G>A | ENSP00000406676.1:p.Ala320Thr | |
| ENST00000429084.5:c.1363G>A | ENSP00000403663.1:p.Ala455Thr | |
| ENST00000445208.5:c.*951G>A | ENSP00000400598.1:n.*951G>A | |
| ENST00000445295.1:c.396G>A | ||
| ENST00000450807.5:c.393+348G>A | ENSP00000391585.1:n.393+348G>A | |
| NM_004722.3:c.1342G>A | NP_004713.2:p.Ala448Thr | |
| XM_005250689.3:c.1363G>A | XP_005250746.1:p.Ala455Thr | |
| XM_005250690.3:c.1138G>A | XP_005250747.1:p.Ala380Thr | |
| XM_006716175.2:c.1240G>A | XP_006716238.1:p.Ala414Thr | |
| XM_011516685.1:c.1363G>A | XP_011514987.1:p.Ala455Thr | |
| XM_011516686.1:c.958G>A | XP_011514988.1:p.Ala320Thr | |
| XM_011516687.1:c.667G>A | XP_011514989.1:p.Ala223Thr | |
| NM_001363671.1:c.1363G>A | NP_001350600.1:p.Ala455Thr | |
| XM_005250689.4:c.1363G>A | XP_005250746.1:p.Ala455Thr | |
| XM_005250690.4:c.1138G>A | XP_005250747.1:p.Ala380Thr | |
| XM_006716175.4:c.1240G>A | XP_006716238.1:p.Ala414Thr | |
| XM_017012790.2:c.835G>A | XP_016868279.1:p.Ala279Thr | |
| XM_017012791.2:c.667G>A | XP_016868280.1:p.Ala223Thr | |
| XM_024446995.1:c.1219G>A | XP_024302763.1:p.Ala407Thr | |
| XM_024446996.1:c.667G>A | XP_024302764.1:p.Ala223Thr | |
| NM_004722.4:c.1342G>A MANE Select | NP_004713.2:p.Ala448Thr | |
| NM_001363671.2:c.1363G>A | NP_001350600.1:p.Ala455Thr |