Linked Data
ClinVar Variation Id:
68320
dbSNP Id:
rs199474729
ExAC:
17:29486068 C / T
gnomAD v2:
17-29486068-C-T
gnomAD v4:
17-31159050-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31159050C>T , CM000679.2:g.31159050C>T | GRCh38 |
| NC_000017.10:g.29486068C>T , CM000679.1:g.29486068C>T | GRCh37 |
| NC_000017.9:g.26510194C>T | NCBI36 |
| NG_009018.1:g.69074C>T , LRG_214:g.69074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.245C>T | ENSP00000512431.1:p.Ser82Phe | |
| ENST00000691014.1:c.245C>T | ENSP00000510595.1:p.Ser82Phe | |
| ENST00000358273.9:c.245C>T MANE Select | ENSP00000351015.4:p.Ser82Phe | |
| ENST00000356175.7:c.245C>T | ENSP00000348498.3:p.Ser82Phe | |
| ENST00000358273.8:c.245C>T | ENSP00000351015.4:p.Ser82Phe | |
| ENST00000431387.8:c.245C>T | ENSP00000412921.4:p.Ser82Phe | |
| ENST00000487476.5:n.628C>T | ||
| ENST00000489712.6:c.44C>T | ENSP00000467284.1:p.Ser15Phe | |
| ENST00000495910.6:c.127C>T | ||
| ENST00000579081.5:c.347C>T | ENSP00000462408.1:p.Ser116Phe | |
| NM_000267.3:c.245C>T , LRG_214t1:c.245C>T | NP_000258.1:p.Ser82Phe | |
| NM_001042492.2:c.245C>T , LRG_214t2:c.245C>T | NP_001035957.1:p.Ser82Phe | |
| NM_001128147.2:c.245C>T | NP_001121619.1:p.Ser82Phe | |
| XM_005257983.1:c.245C>T | XP_005258040.1:p.Ser82Phe | |
| XM_005257984.1:c.245C>T | XP_005258041.1:p.Ser82Phe | |
| XM_006721922.1:c.245C>T | XP_006721985.1:p.Ser82Phe | |
| XM_006721923.2:c.206C>T | XP_006721986.1:p.Ser69Phe | |
| XM_006721924.1:c.245C>T | XP_006721987.1:p.Ser82Phe | |
| XM_006721925.1:c.245C>T | XP_006721988.1:p.Ser82Phe | |
| XM_006721926.2:c.245C>T | XP_006721989.1:p.Ser82Phe | |
| XM_006721927.1:c.245C>T | XP_006721990.1:p.Ser82Phe | |
| XM_006721928.2:c.245C>T | XP_006721991.1:p.Ser82Phe | |
| XM_011524852.1:c.245C>T | XP_011523154.1:p.Ser82Phe | |
| XM_011524853.1:c.206C>T | XP_011523155.1:p.Ser69Phe | |
| XM_011524854.1:c.206C>T | XP_011523156.1:p.Ser69Phe | |
| XM_011524855.1:c.206C>T | XP_011523157.1:p.Ser69Phe | |
| XM_011524856.1:c.206C>T | XP_011523158.1:p.Ser69Phe | |
| XM_011524857.1:c.245C>T | XP_011523159.1:p.Ser82Phe | |
| NM_001042492.3:c.245C>T MANE Select | NP_001035957.1:p.Ser82Phe | |
| NM_001128147.3:c.245C>T | NP_001121619.1:p.Ser82Phe |