Linked Data
ClinVar Variation Id:
14667
ClinVar RCV Id:
RCV003333725
dbSNP Id:
rs1805015
ExAC:
16:27374180 T / C
gnomAD v2:
16-27374180-T-C
gnomAD v3:
16-27362859-T-C
gnomAD v4:
16-27362859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27362859T>C , CM000678.2:g.27362859T>C | GRCh38 |
| NC_000016.9:g.27374180T>C , CM000678.1:g.27374180T>C | GRCh37 |
| NC_000016.8:g.27281681T>C | NCBI36 |
| NG_012086.1:g.53930T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1507T>C MANE Select | ENSP00000379111.2:p.Ser503Pro | |
| ENST00000170630.6:c.1462T>C | ENSP00000170630.3:p.Ser488Pro | |
| ENST00000395762.6:c.1507T>C | ENSP00000379111.2:p.Ser503Pro | |
| ENST00000543915.6:c.1507T>C | ENSP00000441667.2:p.Ser503Pro | |
| ENST00000565352.1:c.230-1244T>C | ENSP00000461268.1:n.230-1244T>C | |
| ENST00000568746.5:c.*1550T>C | ENSP00000455714.1:n.*1550T>C | |
| NM_000418.3:c.1507T>C | NP_000409.1:p.Ser503Pro | |
| NM_001257406.1:c.1507T>C | NP_001244335.1:p.Ser503Pro | |
| NM_001257407.1:c.1462T>C | NP_001244336.1:p.Ser488Pro | |
| NM_001257997.1:c.1027T>C | NP_001244926.1:p.Ser343Pro | |
| XM_005255308.2:c.616T>C | XP_005255365.1:p.Ser206Pro | |
| XM_006721043.1:c.556T>C | XP_006721106.1:p.Ser186Pro | |
| XM_011545825.1:c.1507T>C | XP_011544127.1:p.Ser503Pro | |
| XM_011545826.1:c.1507T>C | XP_011544128.1:p.Ser503Pro | |
| XM_011545827.1:c.1507T>C | XP_011544129.1:p.Ser503Pro | |
| XM_011545828.1:c.1240T>C | XP_011544130.1:p.Ser414Pro | |
| XM_011545829.1:c.1210T>C | XP_011544131.1:p.Ser404Pro | |
| XM_011545830.1:c.1210T>C | XP_011544132.1:p.Ser404Pro | |
| XM_011545831.1:c.1210T>C | XP_011544133.1:p.Ser404Pro | |
| XM_011545832.1:c.1210T>C | XP_011544134.1:p.Ser404Pro | |
| XM_011545833.1:c.1210T>C | XP_011544135.1:p.Ser404Pro | |
| XM_011545834.1:c.1084T>C | XP_011544136.1:p.Ser362Pro | |
| XM_011545826.2:c.1507T>C | XP_011544128.1:p.Ser503Pro | |
| XM_011545827.2:c.1507T>C | XP_011544129.1:p.Ser503Pro | |
| XM_011545828.2:c.1240T>C | XP_011544130.1:p.Ser414Pro | |
| XM_011545830.2:c.1210T>C | XP_011544132.1:p.Ser404Pro | |
| XM_011545833.2:c.1210T>C | XP_011544135.1:p.Ser404Pro | |
| XM_011545834.2:c.1084T>C | XP_011544136.1:p.Ser362Pro | |
| NM_000418.4:c.1507T>C MANE Select | NP_000409.1:p.Ser503Pro | |
| NM_001257406.2:c.1507T>C | NP_001244335.1:p.Ser503Pro | |
| NM_001257407.2:c.1462T>C | NP_001244336.1:p.Ser488Pro | |
| NM_001257997.2:c.1027T>C | NP_001244926.1:p.Ser343Pro |