Linked Data
ClinVar Variation Id:
642023
ClinVar RCV Id:
RCV000795409
dbSNP Id:
rs752212470
ExAC:
1:197390741 G / T
gnomAD v2:
1-197390741-G-T
gnomAD v4:
1-197421611-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421611G>T , CM000663.2:g.197421611G>T | GRCh38 |
| NC_000001.10:g.197390741G>T , CM000663.1:g.197390741G>T | GRCh37 |
| NC_000001.9:g.195657364G>T | NCBI36 |
| NG_008483.1:g.158334G>T | |
| NG_008483.2:g.225150G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1783G>T MANE Select | ENSP00000356370.3:p.Ala595Ser | |
| ENST00000638467.1:c.1783G>T | ENSP00000491102.1:p.Ala595Ser | |
| ENST00000681519.1:c.664G>T | ENSP00000505267.1:p.Ala222Ser | |
| ENST00000367397.1:c.-75G>T | ENSP00000356367.1:n.-75G>T | |
| ENST00000367399.6:c.1447G>T | ENSP00000356369.2:p.Ala483Ser | |
| ENST00000367400.7:c.1783G>T | ENSP00000356370.3:p.Ala595Ser | |
| ENST00000484075.5:c.1783G>T | ENSP00000433932.1:p.Ala595Ser | |
| ENST00000535699.5:c.1576G>T | ENSP00000438786.1:p.Ala526Ser | |
| ENST00000538660.5:c.1783G>T | ENSP00000438091.1:p.Ala595Ser | |
| NM_001193640.1:c.1447G>T | NP_001180569.1:p.Ala483Ser | |
| NM_001257965.1:c.1576G>T | NP_001244894.1:p.Ala526Ser | |
| NM_001257966.1:c.1783G>T | NP_001244895.1:p.Ala595Ser | |
| NM_201253.2:c.1783G>T | NP_957705.1:p.Ala595Ser | |
| NR_047563.1:n.1922+70G>T | ||
| NR_047564.1:n.1992G>T | ||
| XM_011509365.1:c.1783G>T | XP_011507667.1:p.Ala595Ser | |
| XM_011509366.1:c.1783G>T | XP_011507668.1:p.Ala595Ser | |
| XM_011509367.1:c.1783G>T | XP_011507669.1:p.Ala595Ser | |
| XM_011509368.1:c.1201G>T | XP_011507670.1:p.Ala401Ser | |
| XM_011509369.1:c.226G>T | XP_011507671.1:p.Ala76Ser | |
| XM_011509365.2:c.1783G>T | XP_011507667.1:p.Ala595Ser | |
| XM_011509369.2:c.226G>T | XP_011507671.1:p.Ala76Ser | |
| XM_017000851.1:c.940G>T | XP_016856340.1:p.Ala314Ser | |
| XM_017000852.1:c.1783G>T | XP_016856341.1:p.Ala595Ser | |
| NM_201253.3:c.1783G>T MANE Select | NP_957705.1:p.Ala595Ser | |
| NM_001193640.2:c.1447G>T | NP_001180569.1:p.Ala483Ser | |
| NM_001257965.2:c.1576G>T | NP_001244894.1:p.Ala526Ser | |
| NR_047563.2:n.1874+70G>T | ||
| NR_047564.2:n.1944G>T | ||
| NM_001257966.2:c.1783G>T | NP_001244895.1:p.Ala595Ser |