Linked Data
ClinVar Variation Id:
16269
ClinVar RCV Id:
RCV000017657
dbSNP Id:
rs121909657
ExAC:
5:180046749 C / T
gnomAD v2:
5-180046749-C-T
gnomAD v3:
5-180619749-C-T
gnomAD v4:
5-180619749-C-T
PubMed:
PMID:19289394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180619749C>T , CM000667.2:g.180619749C>T | GRCh38 |
| NC_000005.9:g.180046749C>T , CM000667.1:g.180046749C>T | GRCh37 |
| NC_000005.8:g.179979355C>T | NCBI36 |
| NG_011536.1:g.34876G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261937.11:c.2563G>A MANE Select | ENSP00000261937.6:p.Ala855Thr | |
| ENST00000261937.10:c.2563G>A | ENSP00000261937.6:p.Ala855Thr | |
| ENST00000393347.7:c.2563G>A | ENSP00000377016.3:p.Ala855Thr | |
| ENST00000502649.5:c.2563G>A | ENSP00000426057.1:p.Ala855Thr | |
| ENST00000507059.5:n.1658G>A | ||
| ENST00000619105.4:c.*1506G>A | ENSP00000481134.1:n.*1506G>A | |
| NM_002020.4:c.2563G>A | NP_002011.2:p.Ala855Thr | |
| NM_182925.4:c.2563G>A | NP_891555.2:p.Ala855Thr | |
| XM_011534477.1:c.2812G>A | XP_011532779.1:p.Ala938Thr | |
| XM_011534478.1:c.2794G>A | XP_011532780.1:p.Ala932Thr | |
| XM_011534479.1:c.2812G>A | XP_011532781.1:p.Ala938Thr | |
| XM_011534480.1:c.2812G>A | XP_011532782.1:p.Ala938Thr | |
| XM_011534481.1:c.2812G>A | XP_011532783.1:p.Ala938Thr | |
| XM_011534482.1:c.2581G>A | XP_011532784.1:p.Ala861Thr | |
| XM_011534483.1:c.2503G>A | XP_011532785.1:p.Ala835Thr | |
| XM_011534484.1:c.2104G>A | XP_011532786.1:p.Ala702Thr | |
| XR_941095.1:n.2824G>A | ||
| NM_001354989.1:c.2563G>A | NP_001341918.1:p.Ala855Thr | |
| XM_011534478.3:c.2794G>A | XP_011532780.1:p.Ala932Thr | |
| XM_011534484.2:c.2104G>A | XP_011532786.1:p.Ala702Thr | |
| XM_017009263.1:c.2794G>A | XP_016864752.1:p.Ala932Thr | |
| XM_017009264.2:c.2794G>A | XP_016864753.1:p.Ala932Thr | |
| XM_017009265.1:c.2794G>A | XP_016864754.1:p.Ala932Thr | |
| XM_017009266.1:c.2794G>A | XP_016864755.1:p.Ala932Thr | |
| XM_017009267.2:c.2794G>A | XP_016864756.1:p.Ala932Thr | |
| XM_017009268.1:c.2485G>A | XP_016864757.1:p.Ala829Thr | |
| XR_001742050.2:n.3028G>A | ||
| NM_182925.5:c.2563G>A MANE Select | NP_891555.2:p.Ala855Thr | |
| NM_001354989.2:c.2563G>A | NP_001341918.1:p.Ala855Thr | |
| NM_002020.5:c.2563G>A | NP_002011.2:p.Ala855Thr |