Linked Data
ClinVar Variation Id:
2212423
ClinVar RCV Id:
RCV004081986
dbSNP Id:
rs769364439
ExAC:
2:219870265 C / T
gnomAD v4:
2-219005543-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219005543C>T , CM000664.2:g.219005543C>T | GRCh38 |
| NC_000002.11:g.219870265C>T , CM000664.1:g.219870265C>T | GRCh37 |
| NC_000002.10:g.219578509C>T | NCBI36 |
| NG_051336.1:g.41009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341552.10:c.4942G>A MANE Select | ENSP00000340776.5:p.Ala1648Thr | |
| ENST00000341552.9:c.4942G>A | ENSP00000340776.5:p.Ala1648Thr | |
| ENST00000453220.5:c.4942G>A | ENSP00000409117.1:p.Ala1648Thr | |
| NM_194302.3:c.4942G>A | NP_919278.2:p.Ala1648Thr | |
| NR_046086.1:n.86+3243C>T | ||
| XM_011510903.1:c.4990G>A | XP_011509205.1:p.Ala1664Thr | |
| XM_011510904.1:c.4990G>A | XP_011509206.1:p.Ala1664Thr | |
| XM_011510905.1:c.4987G>A | XP_011509207.1:p.Ala1663Thr | |
| XM_011510906.1:c.4987G>A | XP_011509208.1:p.Ala1663Thr | |
| XM_011510907.1:c.4987G>A | XP_011509209.1:p.Ala1663Thr | |
| XM_011510908.1:c.4987G>A | XP_011509210.1:p.Ala1663Thr | |
| XM_011510909.1:c.4987G>A | XP_011509211.1:p.Ala1663Thr | |
| XM_011510910.1:c.4945G>A | XP_011509212.1:p.Ala1649Thr | |
| XM_011510911.1:c.4792G>A | XP_011509213.1:p.Ala1598Thr | |
| XM_011510912.1:c.4792G>A | XP_011509214.1:p.Ala1598Thr | |
| XM_011510913.1:c.4792G>A | XP_011509215.1:p.Ala1598Thr | |
| XM_011510914.1:c.4792G>A | XP_011509216.1:p.Ala1598Thr | |
| XM_011510915.1:c.4792G>A | XP_011509217.1:p.Ala1598Thr | |
| XM_011510916.1:c.4711G>A | XP_011509218.1:p.Ala1571Thr | |
| XM_011510917.1:c.4792G>A | XP_011509219.1:p.Ala1598Thr | |
| XM_011510918.1:c.4792G>A | XP_011509220.1:p.Ala1598Thr | |
| XM_011510919.1:c.5021G>A | XP_011509221.1:p.Gly1674Asp | |
| XM_011510921.1:c.3346G>A | XP_011509223.1:p.Ala1116Thr | |
| XM_011510904.2:c.4990G>A | XP_011509206.1:p.Ala1664Thr | |
| XM_017003752.1:c.4987G>A | XP_016859241.1:p.Ala1663Thr | |
| XM_017003753.1:c.4954G>A | XP_016859242.1:p.Ala1652Thr | |
| XM_017003754.1:c.4792G>A | XP_016859243.1:p.Ala1598Thr | |
| XM_017003755.1:c.4792G>A | XP_016859244.1:p.Ala1598Thr | |
| NM_194302.4:c.4942G>A MANE Select | NP_919278.2:p.Ala1648Thr |