Linked Data
dbSNP Id:
rs1463850736
gnomAD v2:
12-25378610-C-T
gnomAD v3:
12-25225676-C-T
gnomAD v4:
12-25225676-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225676C>T , CM000674.2:g.25225676C>T | GRCh38 |
| NC_000012.11:g.25378610C>T , CM000674.1:g.25378610C>T | GRCh37 |
| NC_000012.10:g.25269877C>T | NCBI36 |
| NG_007524.1:g.30245G>A | |
| NG_007524.2:g.30328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15765G>A | ENSP00000452512.1:n.112-15765G>A | |
| ENST00000685328.1:c.388G>A | ENSP00000508921.1:p.Ala130Thr | |
| ENST00000686877.1:c.*359G>A | ENSP00000510431.1:n.*359G>A | |
| ENST00000687356.1:c.*86G>A | ENSP00000510511.1:n.*86G>A | |
| ENST00000688228.1:n.862G>A | ||
| ENST00000688940.1:c.388G>A | ENSP00000509238.1:p.Ala130Thr | |
| ENST00000690406.1:c.98G>A | ||
| ENST00000690804.1:c.*349G>A | ENSP00000508568.1:n.*349G>A | |
| ENST00000692768.1:c.190G>A | ENSP00000510254.1:p.Ala64Thr | |
| ENST00000693229.1:c.313G>A | ENSP00000509223.1:p.Ala105Thr | |
| ENST00000256078.10:c.388G>A MANE Plus Clinical | ENSP00000256078.5:p.Ala130Thr | |
| ENST00000311936.8:c.388G>A MANE Select | ENSP00000308495.3:p.Ala130Thr | |
| ENST00000256078.8:c.388G>A | ENSP00000256078.4:p.Ala130Thr | |
| ENST00000311936.7:c.388G>A | ENSP00000308495.3:p.Ala130Thr | |
| ENST00000557334.5:c.112-15765G>A | ENSP00000452512.1:n.112-15765G>A | |
| NM_004985.4:c.388G>A | NP_004976.2:p.Ala130Thr | |
| NM_033360.3:c.388G>A | NP_203524.1:p.Ala130Thr | |
| XM_006719069.2:c.388G>A | XP_006719132.1:p.Ala130Thr | |
| XM_011520653.1:c.388G>A | XP_011518955.1:p.Ala130Thr | |
| XM_006719069.4:c.388G>A | XP_006719132.1:p.Ala130Thr | |
| XM_011520653.3:c.388G>A | XP_011518955.1:p.Ala130Thr | |
| NM_001369786.1:c.388G>A | NP_001356715.1:p.Ala130Thr | |
| NM_001369787.1:c.388G>A | NP_001356716.1:p.Ala130Thr | |
| NM_004985.5:c.388G>A MANE Select | NP_004976.2:p.Ala130Thr | |
| NM_033360.4:c.388G>A MANE Plus Clinical | NP_203524.1:p.Ala130Thr |