Linked Data
ClinVar Variation Id:
257148
dbSNP Id:
rs145896287
ExAC:
12:45751145 C / T
gnomAD v2:
12-45751145-C-T
gnomAD v3:
12-45357362-C-T
gnomAD v4:
12-45357362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45357362C>T , CM000674.2:g.45357362C>T | GRCh38 |
| NC_000012.11:g.45751145C>T , CM000674.1:g.45751145C>T | GRCh37 |
| NC_000012.10:g.44037412C>T | NCBI36 |
| NG_028220.1:g.146376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320560.13:c.936C>T MANE Select | ENSP00000320087.8:p.Ala312= | |
| ENST00000679426.1:c.903C>T | ENSP00000506600.1:p.Ala301= | |
| ENST00000679761.1:c.936C>T | ENSP00000505361.1:p.Ala312= | |
| ENST00000680201.1:c.936C>T | ENSP00000506222.1:p.Ala312= | |
| ENST00000680371.1:c.936C>T | ENSP00000506392.1:p.Ala312= | |
| ENST00000680498.1:c.519C>T | ENSP00000506613.1:p.Ala173= | |
| ENST00000681156.1:c.936C>T | ENSP00000506069.1:p.Ala312= | |
| ENST00000681817.1:c.519C>T | ENSP00000506683.1:p.Ala173= | |
| ENST00000320560.12:c.936C>T | ENSP00000320087.8:p.Ala312= | |
| ENST00000423947.7:c.999C>T | ENSP00000409126.3:p.Ala333= | |
| ENST00000425752.6:c.936C>T | ENSP00000391417.2:p.Ala312= | |
| ENST00000426898.2:n.1191C>T | ||
| ENST00000441606.2:c.882C>T | ENSP00000413137.2:p.Ala294= | |
| NM_001025356.2:c.936C>T | NP_001020527.2:p.Ala312= | |
| NM_001142678.1:c.882C>T | NP_001136150.1:p.Ala294= | |
| NM_001142679.1:c.936C>T | NP_001136151.1:p.Ala312= | |
| NM_001204803.1:c.999C>T | NP_001191732.1:p.Ala333= | |
| XM_005268706.3:c.903C>T | XP_005268763.1:p.Ala301= | |
| XM_005268707.2:c.837C>T | XP_005268764.1:p.Ala279= | |
| XM_011538024.1:c.999C>T | XP_011536326.1:p.Ala333= | |
| XM_005268706.5:c.903C>T | XP_005268763.1:p.Ala301= | |
| XM_005268707.4:c.837C>T | XP_005268764.1:p.Ala279= | |
| NM_001025356.3:c.936C>T MANE Select | NP_001020527.2:p.Ala312= | |
| NM_001142678.2:c.882C>T | NP_001136150.1:p.Ala294= | |
| NM_001142679.2:c.936C>T | NP_001136151.1:p.Ala312= | |
| NM_001204803.2:c.999C>T | NP_001191732.1:p.Ala333= |