Linked Data
dbSNP Id:
rs1804645
ExAC:
2:24974958 C / T
gnomAD v2:
2-24974958-C-T
gnomAD v3:
2-24752089-C-T
gnomAD v4:
2-24752089-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24752089C>T , CM000664.2:g.24752089C>T | GRCh38 |
| NC_000002.11:g.24974958C>T , CM000664.1:g.24974958C>T | GRCh37 |
| NC_000002.10:g.24828462C>T | NCBI36 |
| NG_029014.1:g.172613C>T | |
| NG_029014.2:g.265040C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348332.8:c.3814C>T MANE Select | ENSP00000320940.5:p.Pro1272Ser | |
| ENST00000288599.9:c.3814C>T | ENSP00000288599.5:p.Pro1272Ser | |
| ENST00000348332.7:c.3814C>T | ENSP00000320940.5:p.Pro1272Ser | |
| ENST00000395856.3:c.3814C>T | ENSP00000379197.3:p.Pro1272Ser | |
| ENST00000405141.5:c.3814C>T | ENSP00000385097.1:p.Pro1272Ser | |
| ENST00000406961.5:c.3814C>T | ENSP00000385216.1:p.Pro1272Ser | |
| ENST00000407230.5:c.3361C>T | ENSP00000385195.1:p.Pro1121Ser | |
| NM_003743.4:c.3814C>T | NP_003734.3:p.Pro1272Ser | |
| NM_147223.2:c.3814C>T | NP_671756.1:p.Pro1272Ser | |
| NM_147233.2:c.3814C>T | NP_671766.1:p.Pro1272Ser | |
| XM_005264625.1:c.3814C>T | XP_005264682.1:p.Pro1272Ser | |
| XM_005264626.1:c.3814C>T | XP_005264683.1:p.Pro1272Ser | |
| XM_005264627.1:c.3814C>T | XP_005264684.1:p.Pro1272Ser | |
| XM_005264628.1:c.3814C>T | XP_005264685.1:p.Pro1272Ser | |
| XM_011533141.1:c.3499C>T | XP_011531443.1:p.Pro1167Ser | |
| NM_001362950.1:c.3814C>T | NP_001349879.1:p.Pro1272Ser | |
| NM_001362952.1:c.3814C>T | NP_001349881.1:p.Pro1272Ser | |
| NM_001362954.1:c.3814C>T | NP_001349883.1:p.Pro1272Ser | |
| NM_001362955.1:c.3814C>T | NP_001349884.1:p.Pro1272Ser | |
| NM_003743.5:c.3814C>T MANE Select | NP_003734.3:p.Pro1272Ser | |
| NM_147223.3:c.3814C>T | NP_671756.1:p.Pro1272Ser |