Linked Data
ClinVar Variation Id:
402860
ClinVar RCV Id:
RCV000454785
dbSNP Id:
rs115855950
ExAC:
1:159779464 T / C
gnomAD v2:
1-159779464-T-C
gnomAD v3:
1-159809674-T-C
gnomAD v4:
1-159809674-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159809674T>C , CM000663.2:g.159809674T>C | GRCh38 |
| NC_000001.10:g.159779464T>C , CM000663.1:g.159779464T>C | GRCh37 |
| NC_000001.9:g.158046088T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368106.4:c.877T>C MANE Select | ENSP00000357086.3:p.Ser293Pro | |
| ENST00000321935.10:c.898T>C | ENSP00000320625.6:p.Ser300Pro | |
| ENST00000339348.9:c.877T>C | ENSP00000340949.5:p.Ser293Pro | |
| ENST00000368106.3:c.877T>C | ENSP00000357086.3:p.Ser293Pro | |
| ENST00000392235.7:c.592T>C | ENSP00000376068.3:p.Ser198Pro | |
| NM_001004310.2:c.877T>C | NP_001004310.2:p.Ser293Pro | |
| NM_001284217.1:c.898T>C | NP_001271146.1:p.Ser300Pro | |
| XM_005245128.2:c.907T>C | XP_005245185.1:p.Ser303Pro | |
| XM_005245129.2:c.862T>C | XP_005245186.1:p.Ser288Pro | |
| XM_005245131.2:c.907T>C | XP_005245188.1:p.Ser303Pro | |
| XM_006711292.2:c.907T>C | XP_006711355.1:p.Ser303Pro | |
| XM_011509480.1:c.898T>C | XP_011507782.1:p.Ser300Pro | |
| XM_011509481.1:c.907T>C | XP_011507783.1:p.Ser303Pro | |
| XM_005245128.4:c.907T>C | XP_005245185.1:p.Ser303Pro | |
| XM_005245129.4:c.862T>C | XP_005245186.1:p.Ser288Pro | |
| XM_005245131.3:c.907T>C | XP_005245188.1:p.Ser303Pro | |
| XM_006711292.3:c.907T>C | XP_006711355.1:p.Ser303Pro | |
| XM_011509480.2:c.898T>C | XP_011507782.1:p.Ser300Pro | |
| XM_011509481.2:c.907T>C | XP_011507783.1:p.Ser303Pro | |
| XM_017001176.1:c.766T>C | XP_016856665.1:p.Ser256Pro | |
| XM_017001177.1:c.670T>C | XP_016856666.1:p.Ser224Pro | |
| NM_001004310.3:c.877T>C MANE Select | NP_001004310.2:p.Ser293Pro | |
| NM_001284217.2:c.898T>C | NP_001271146.1:p.Ser300Pro |