Linked Data
ClinVar Variation Id:
479771
ClinVar RCV Id:
RCV000562659
dbSNP Id:
rs1312071883
gnomAD v2:
11-94178976-C-T
gnomAD v4:
11-94445810-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94445810C>T , CM000673.2:g.94445810C>T | GRCh38 |
| NC_000011.9:g.94178976C>T , CM000673.1:g.94178976C>T | GRCh37 |
| NC_000011.8:g.93818624C>T | NCBI36 |
| NG_007261.1:g.53065G>A , LRG_85:g.53065G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1867G>A MANE Select | ENSP00000325863.4:p.Ala623Thr | |
| ENST00000323929.7:c.1867G>A | ENSP00000325863.3:p.Ala623Thr | |
| ENST00000323977.7:c.1783+1409G>A | ENSP00000326094.3:n.1783+1409G>A | |
| ENST00000393241.8:c.1864G>A | ENSP00000376933.4:p.Ala622Thr | |
| ENST00000407439.7:c.1876G>A | ENSP00000385614.3:p.Ala626Thr | |
| ENST00000535120.1:n.163G>A | ||
| NM_005590.3:c.1783+1409G>A | NP_005581.2:n.1783+1409G>A | |
| NM_005591.3:c.1867G>A , LRG_85t1:c.1867G>A | NP_005582.1:p.Ala623Thr | |
| XM_005274008.2:c.1399G>A | XP_005274065.1:p.Ala467Thr | |
| XM_006718842.2:c.1864G>A | XP_006718905.1:p.Ala622Thr | |
| XM_011542837.1:c.1867G>A | XP_011541139.1:p.Ala623Thr | |
| XR_947828.1:n.2163G>A | ||
| NM_001330347.1:c.1864G>A | NP_001317276.1:p.Ala622Thr | |
| XM_005274008.3:c.1399G>A | XP_005274065.1:p.Ala467Thr | |
| XM_006718842.3:c.1864G>A | XP_006718905.1:p.Ala622Thr | |
| XM_011542837.2:c.1867G>A | XP_011541139.1:p.Ala623Thr | |
| XM_017017772.1:c.1867G>A | XP_016873261.1:p.Ala623Thr | |
| XR_947828.2:n.2163G>A | ||
| NM_001330347.2:c.1864G>A | NP_001317276.1:p.Ala622Thr | |
| NM_005590.4:c.1783+1409G>A | NP_005581.2:n.1783+1409G>A | |
| NM_005591.4:c.1867G>A MANE Select | NP_005582.1:p.Ala623Thr |