Linked Data
dbSNP Id:
rs778631421
ExAC:
3:38442406 C / T
gnomAD v2:
3-38442406-C-T
gnomAD v4:
3-38400915-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38400915C>T , CM000665.2:g.38400915C>T | GRCh38 |
| NC_000003.11:g.38442406C>T , CM000665.1:g.38442406C>T | GRCh37 |
| NC_000003.10:g.38417410C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000207870.8:c.1463C>T MANE Select | ENSP00000207870.3:p.Pro488Leu | |
| ENST00000649234.1:c.*698C>T | ENSP00000497023.1:n.*698C>T | |
| ENST00000650590.1:c.1382C>T | ENSP00000496840.1:p.Pro461Leu | |
| ENST00000207870.7:c.1463C>T | ENSP00000207870.3:p.Pro488Leu | |
| ENST00000424034.5:c.*1126C>T | ENSP00000398845.1:n.*1126C>T | |
| ENST00000472721.1:n.340C>T | ||
| NM_005108.3:c.1463C>T | NP_005099.2:p.Pro488Leu | |
| XM_011534325.1:c.1463C>T | XP_011532627.1:p.Pro488Leu | |
| XM_011534326.1:c.1382C>T | XP_011532628.1:p.Pro461Leu | |
| XM_011534327.1:c.1463C>T | XP_011532629.1:p.Pro488Leu | |
| XM_011534328.1:c.1463C>T | XP_011532630.1:p.Pro488Leu | |
| XM_011534329.1:c.1463C>T | XP_011532631.1:p.Pro488Leu | |
| XM_011534330.1:c.1463C>T | XP_011532632.1:p.Pro488Leu | |
| NM_001349178.1:c.1463C>T | NP_001336107.1:p.Pro488Leu | |
| NM_001349179.1:c.1052C>T | NP_001336108.1:p.Pro351Leu | |
| NR_146068.1:n.1380C>T | ||
| XM_011534325.3:c.1463C>T | XP_011532627.1:p.Pro488Leu | |
| XM_011534327.2:c.1463C>T | XP_011532629.1:p.Pro488Leu | |
| XM_011534328.3:c.1463C>T | XP_011532630.1:p.Pro488Leu | |
| XM_011534329.2:c.1463C>T | XP_011532631.1:p.Pro488Leu | |
| XM_011534330.3:c.1463C>T | XP_011532632.1:p.Pro488Leu | |
| XM_017007595.1:c.1052C>T | XP_016863084.1:p.Pro351Leu | |
| XM_017007596.1:c.1265C>T | XP_016863085.1:p.Pro422Leu | |
| XM_017007597.1:c.782C>T | XP_016863086.1:p.Pro261Leu | |
| XM_017007599.2:c.*73C>T | XP_016863088.1:n.*73C>T | |
| XM_024453850.1:c.1265C>T | XP_024309618.1:p.Pro422Leu | |
| NM_001349178.2:c.1463C>T | NP_001336107.1:p.Pro488Leu | |
| NM_005108.4:c.1463C>T MANE Select | NP_005099.2:p.Pro488Leu | |
| NR_146068.2:n.1355C>T | ||
| NM_001349179.2:c.1052C>T | NP_001336108.1:p.Pro351Leu |