Linked Data
ClinVar Variation Id:
134881
ClinVar RCV Id:
RCV000121628
RCV000129662
RCV000200171
RCV000587577
RCV001124835
RCV001124837
RCV001124836
dbSNP Id:
rs145891889
ExAC:
17:29552261 C / T
gnomAD v2:
17-29552261-C-T
gnomAD v3:
17-31225243-C-T
gnomAD v4:
17-31225243-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31225243C>T , CM000679.2:g.31225243C>T | GRCh38 |
| NC_000017.10:g.29552261C>T , CM000679.1:g.29552261C>T | GRCh37 |
| NC_000017.9:g.26576387C>T | NCBI36 |
| NG_009018.1:g.135267C>T , LRG_214:g.135267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.2039C>T | ENSP00000512431.1:p.Ser680Phe | |
| ENST00000691014.1:c.2024C>T | ENSP00000510595.1:p.Ser675Phe | |
| ENST00000358273.9:c.1994C>T MANE Select | ENSP00000351015.4:p.Ser665Phe | |
| ENST00000356175.7:c.1994C>T | ENSP00000348498.3:p.Ser665Phe | |
| ENST00000358273.8:c.1994C>T | ENSP00000351015.4:p.Ser665Phe | |
| ENST00000456735.6:c.992C>T | ENSP00000389907.2:p.Ser331Phe | |
| ENST00000493220.5:n.161C>T | ||
| ENST00000495910.6:c.1769C>T | ||
| ENST00000579081.5:c.2096C>T | ENSP00000462408.1:p.Ser699Phe | |
| NM_000267.3:c.1994C>T , LRG_214t1:c.1994C>T | NP_000258.1:p.Ser665Phe | |
| NM_001042492.2:c.1994C>T , LRG_214t2:c.1994C>T | NP_001035957.1:p.Ser665Phe | |
| XM_005257983.1:c.1994C>T | XP_005258040.1:p.Ser665Phe | |
| XM_005257984.1:c.1994C>T | XP_005258041.1:p.Ser665Phe | |
| XM_006721922.1:c.2024C>T | XP_006721985.1:p.Ser675Phe | |
| XM_006721923.2:c.1985C>T | XP_006721986.1:p.Ser662Phe | |
| XM_006721924.1:c.2024C>T | XP_006721987.1:p.Ser675Phe | |
| XM_006721925.1:c.2024C>T | XP_006721988.1:p.Ser675Phe | |
| XM_006721926.2:c.2024C>T | XP_006721989.1:p.Ser675Phe | |
| XM_006721927.1:c.2024C>T | XP_006721990.1:p.Ser675Phe | |
| XM_006721928.2:c.2024C>T | XP_006721991.1:p.Ser675Phe | |
| XM_011524852.1:c.2021C>T | XP_011523154.1:p.Ser674Phe | |
| XM_011524853.1:c.1985C>T | XP_011523155.1:p.Ser662Phe | |
| XM_011524854.1:c.1985C>T | XP_011523156.1:p.Ser662Phe | |
| XM_011524855.1:c.1985C>T | XP_011523157.1:p.Ser662Phe | |
| XM_011524856.1:c.1985C>T | XP_011523158.1:p.Ser662Phe | |
| XM_011524857.1:c.2024C>T | XP_011523159.1:p.Ser675Phe | |
| NM_001042492.3:c.1994C>T MANE Select | NP_001035957.1:p.Ser665Phe |