Linked Data
ClinVar Variation Id:
871480
dbSNP Id:
rs1056274601
gnomAD v3:
5-37010181-T-C
gnomAD v4:
5-37010181-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37010181T>C , CM000667.2:g.37010181T>C | GRCh38 |
| NC_000005.9:g.37010283T>C , CM000667.1:g.37010283T>C | GRCh37 |
| NC_000005.8:g.37046040T>C | NCBI36 |
| NG_006987.1:g.138299T>C | |
| NG_006987.2:g.138299T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.4516T>C MANE Select | ENSP00000282516.8:p.Ser1506Pro | |
| ENST00000652901.1:c.4516T>C | ENSP00000499536.1:p.Ser1506Pro | |
| ENST00000282516.12:c.4516T>C | ENSP00000282516.8:p.Ser1506Pro | |
| ENST00000448238.2:c.4516T>C | ENSP00000406266.2:p.Ser1506Pro | |
| ENST00000621733.1:c.1-54397T>C | ENSP00000480694.1:n.1-54397T>C | |
| NM_015384.4:c.4516T>C | NP_056199.2:p.Ser1506Pro | |
| NM_133433.3:c.4516T>C | NP_597677.2:p.Ser1506Pro | |
| XM_005248280.2:c.4516T>C | XP_005248337.1:p.Ser1506Pro | |
| XM_005248282.3:c.3772T>C | XP_005248339.2:p.Ser1258Pro | |
| XM_006714467.2:c.4516T>C | XP_006714530.1:p.Ser1506Pro | |
| XM_006714468.1:c.4318T>C | XP_006714531.1:p.Ser1440Pro | |
| XM_011514014.1:c.4135T>C | XP_011512316.1:p.Ser1379Pro | |
| XM_011514015.1:c.4516T>C | XP_011512317.1:p.Ser1506Pro | |
| XM_005248280.3:c.4516T>C | XP_005248337.1:p.Ser1506Pro | |
| XM_005248282.5:c.3856T>C | XP_005248339.3:p.Ser1286Pro | |
| XM_006714468.2:c.4318T>C | XP_006714531.1:p.Ser1440Pro | |
| XM_017009329.1:c.4516T>C | XP_016864818.1:p.Ser1506Pro | |
| XM_017009330.2:c.2899T>C | XP_016864819.1:p.Ser967Pro | |
| XM_017009331.1:c.2890T>C | XP_016864820.1:p.Ser964Pro | |
| NM_133433.4:c.4516T>C MANE Select | NP_597677.2:p.Ser1506Pro | |
| NM_015384.5:c.4516T>C | NP_056199.2:p.Ser1506Pro |