Linked Data
ClinVar Variation Id:
185223
dbSNP Id:
rs757245615
ExAC:
17:29679301 C / T
gnomAD v2:
17-29679301-C-T
gnomAD v4:
17-31352283-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31352283C>T , CM000679.2:g.31352283C>T | GRCh38 |
| NC_000017.10:g.29679301C>T , CM000679.1:g.29679301C>T | GRCh37 |
| NC_000017.9:g.26703427C>T | NCBI36 |
| NG_009018.1:g.262307C>T , LRG_214:g.262307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7466C>T | ENSP00000512431.1:p.Ser2489Phe | |
| ENST00000684826.1:c.2048C>T | ENSP00000509994.1:p.Ser683Phe | |
| ENST00000687027.1:c.1640C>T | ENSP00000508715.1:p.Ser547Phe | |
| ENST00000687863.1:n.4129C>T | ||
| ENST00000689464.1:c.534C>T | ||
| ENST00000691014.1:c.7514C>T | ENSP00000510595.1:p.Ser2505Phe | |
| ENST00000693617.1:c.2048C>T | ENSP00000510031.1:p.Ser683Phe | |
| ENST00000358273.9:c.7484C>T MANE Select | ENSP00000351015.4:p.Ser2495Phe | |
| ENST00000356175.7:c.7421C>T | ENSP00000348498.3:p.Ser2474Phe | |
| ENST00000358273.8:c.7484C>T | ENSP00000351015.4:p.Ser2495Phe | |
| ENST00000456735.6:c.6419C>T | ENSP00000389907.2:p.Ser2140Phe | |
| ENST00000471572.6:c.867C>T | ||
| ENST00000579081.5:c.7620C>T | ENSP00000462408.1:n.7620C>T | |
| ENST00000581790.5:c.600+1965C>T | ||
| NM_000267.3:c.7421C>T , LRG_214t1:c.7421C>T | NP_000258.1:p.Ser2474Phe | |
| NM_001042492.2:c.7484C>T , LRG_214t2:c.7484C>T | NP_001035957.1:p.Ser2495Phe | |
| XM_005257983.1:c.7484C>T | XP_005258040.1:p.Ser2495Phe | |
| XM_005257984.1:c.7421C>T | XP_005258041.1:p.Ser2474Phe | |
| XM_006721922.1:c.7514C>T | XP_006721985.1:p.Ser2505Phe | |
| XM_006721923.2:c.7475C>T | XP_006721986.1:p.Ser2492Phe | |
| XM_006721924.1:c.7514C>T | XP_006721987.1:p.Ser2505Phe | |
| XM_006721925.1:c.7451C>T | XP_006721988.1:p.Ser2484Phe | |
| XM_006721926.2:c.7514C>T | XP_006721989.1:p.Ser2505Phe | |
| XM_006721927.1:c.7514C>T | XP_006721990.1:p.Ser2505Phe | |
| XM_011524852.1:c.7511C>T | XP_011523154.1:p.Ser2504Phe | |
| XM_011524853.1:c.7475C>T | XP_011523155.1:p.Ser2492Phe | |
| XM_011524854.1:c.7475C>T | XP_011523156.1:p.Ser2492Phe | |
| XM_011524855.1:c.7475C>T | XP_011523157.1:p.Ser2492Phe | |
| XM_011524856.1:c.7475C>T | XP_011523158.1:p.Ser2492Phe | |
| XM_011524857.1:c.7514C>T | XP_011523159.1:p.Ser2505Phe | |
| NM_001042492.3:c.7484C>T MANE Select | NP_001035957.1:p.Ser2495Phe |