Linked Data
ClinVar Variation Id:
128852
dbSNP Id:
rs1047891
ExAC:
2:211540507 C / A
gnomAD v2:
2-211540507-C-A
gnomAD v3:
2-210675783-C-A
gnomAD v4:
2-210675783-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210675783C>A , CM000664.2:g.210675783C>A | GRCh38 |
| NC_000002.11:g.211540507C>A , CM000664.1:g.211540507C>A | GRCh37 |
| NC_000002.10:g.211248752C>A | NCBI36 |
| NG_008285.1:g.203099C>A , LRG_336:g.203099C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.4217C>A MANE Select | ENSP00000233072.5:p.Thr1406Asn | |
| ENST00000430249.7:c.4235C>A | ENSP00000402608.2:p.Thr1412Asn | |
| ENST00000451903.3:c.2864C>A | ENSP00000406136.2:p.Thr955Asn | |
| ENST00000645825.1:n.882C>A | ||
| ENST00000671984.1:n.365C>A | ||
| ENST00000673510.1:c.4217C>A | ENSP00000500537.1:p.Thr1406Asn | |
| ENST00000673630.1:c.4217C>A | ENSP00000501073.1:p.Thr1406Asn | |
| ENST00000673698.1:c.2840C>A | ||
| ENST00000673711.1:c.4217C>A | ENSP00000501022.1:p.Thr1406Asn | |
| ENST00000674074.1:n.3362C>A | ||
| ENST00000233072.9:c.4217C>A | ENSP00000233072.5:p.Thr1406Asn | |
| ENST00000430249.6:c.4235C>A | ENSP00000402608.2:p.Thr1412Asn | |
| ENST00000451903.2:c.2864C>A | ENSP00000406136.2:p.Thr955Asn | |
| ENST00000479988.1:n.3403C>A | ||
| NM_001122633.2:c.4235C>A | NP_001116105.1:p.Thr1412Asn | |
| NM_001122634.3:c.2864C>A | NP_001116106.1:p.Thr955Asn | |
| NM_001875.4:c.4217C>A , LRG_336t1:c.4217C>A | NP_001866.2:p.Thr1406Asn | |
| XM_011510640.1:c.4250C>A | XP_011508942.1:p.Thr1417Asn | |
| XM_011510641.1:c.4217C>A | XP_011508943.1:p.Thr1406Asn | |
| XM_011510642.1:c.4217C>A | XP_011508944.1:p.Thr1406Asn | |
| XM_011510643.1:c.4217C>A | XP_011508945.1:p.Thr1406Asn | |
| XM_011510644.1:c.4217C>A | XP_011508946.1:p.Thr1406Asn | |
| NM_001122633.3:c.4217C>A | NP_001116105.2:p.Thr1406Asn | |
| NM_001369256.1:c.4250C>A | NP_001356185.1:p.Thr1417Asn | |
| NM_001369257.1:c.4217C>A | NP_001356186.1:p.Thr1406Asn | |
| NM_001875.5:c.4217C>A MANE Select | NP_001866.2:p.Thr1406Asn | |
| NR_161225.1:n.5126C>A | ||
| NR_163592.1:n.3373C>A |