Linked Data
ClinVar Variation Id:
197964
dbSNP Id:
rs151249006
ExAC:
1:103377744 C / T
gnomAD v2:
1-103377744-C-T
gnomAD v3:
1-102912188-C-T
gnomAD v4:
1-102912188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102912188C>T , CM000663.2:g.102912188C>T | GRCh38 |
| NC_000001.10:g.103377744C>T , CM000663.1:g.103377744C>T | GRCh37 |
| NC_000001.9:g.103150332C>T | NCBI36 |
| NG_008033.1:g.201309G>A | |
| NG_008033.2:g.201309G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4057G>A MANE Select | ENSP00000359114.3:p.Ala1353Thr | |
| ENST00000353414.8:c.3940G>A | ENSP00000302551.6:p.Ala1314Thr | |
| ENST00000358392.6:c.4093G>A | ENSP00000351163.2:p.Ala1365Thr | |
| ENST00000370096.7:c.4057G>A | ENSP00000359114.3:p.Ala1353Thr | |
| ENST00000512756.5:c.3709G>A | ENSP00000426533.1:p.Ala1237Thr | |
| ENST00000635193.1:c.3391G>A | ||
| NM_001190709.1:c.3940G>A | NP_001177638.1:p.Ala1314Thr | |
| NM_001854.3:c.4057G>A | NP_001845.3:p.Ala1353Thr | |
| NM_080629.2:c.4093G>A | NP_542196.2:p.Ala1365Thr | |
| NM_080630.3:c.3709G>A | NP_542197.3:p.Ala1237Thr | |
| XM_011540719.1:c.4057G>A | XP_011539021.1:p.Ala1353Thr | |
| XM_011540720.1:c.2290G>A | XP_011539022.1:p.Ala764Thr | |
| XM_011540721.1:c.1645G>A | XP_011539023.1:p.Ala549Thr | |
| NR_134980.1:n.4391G>A | ||
| XM_017000334.1:c.4210G>A | XP_016855823.1:p.Ala1404Thr | |
| XM_017000335.1:c.4204G>A | XP_016855824.1:p.Ala1402Thr | |
| XM_017000336.1:c.4210G>A | XP_016855825.1:p.Ala1404Thr | |
| XM_017000337.1:c.2608G>A | XP_016855826.1:p.Ala870Thr | |
| NM_001854.4:c.4057G>A MANE Select | NP_001845.3:p.Ala1353Thr | |
| NM_080630.4:c.3709G>A | NP_542197.3:p.Ala1237Thr | |
| NR_134980.2:n.4417G>A | ||
| NM_001190709.2:c.3940G>A | NP_001177638.1:p.Ala1314Thr | |
| NM_080629.3:c.4093G>A | NP_542196.2:p.Ala1365Thr |