Linked Data
ClinVar Variation Id:
9537
ClinVar RCV Id:
RCV000010145
dbSNP Id:
rs137852604
gnomAD v2:
10-111988034-C-T
gnomAD v3:
10-110228276-C-T
gnomAD v4:
10-110228276-C-T
PubMed:
PMID:10470286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110228276C>T , CM000672.2:g.110228276C>T | GRCh38 |
| NC_000010.10:g.111988034C>T , CM000672.1:g.111988034C>T | GRCh37 |
| NC_000010.9:g.111978024C>T | NCBI36 |
| NG_012103.1:g.25672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650644.1:c.53C>T | ENSP00000498900.1:p.Ala18Val | |
| ENST00000650696.1:c.53C>T | ENSP00000499158.1:p.Ala18Val | |
| ENST00000650752.1:c.53C>T | ENSP00000499134.1:p.Ala18Val | |
| ENST00000650810.1:c.53C>T | ENSP00000498390.1:p.Ala18Val | |
| ENST00000650843.1:c.53C>T | ENSP00000498547.1:p.Ala18Val | |
| ENST00000650900.1:c.53C>T | ENSP00000499209.1:p.Ala18Val | |
| ENST00000650952.1:c.53C>T | ENSP00000499161.1:p.Ala18Val | |
| ENST00000651004.1:c.53C>T | ENSP00000498396.1:p.Ala18Val | |
| ENST00000651109.1:c.53C>T | ENSP00000498214.1:p.Ala18Val | |
| ENST00000651167.1:c.53C>T | ENSP00000498764.1:p.Ala18Val | |
| ENST00000651225.1:c.*150C>T | ENSP00000498220.1:n.*150C>T | |
| ENST00000651318.1:c.53C>T | ENSP00000498911.1:p.Ala18Val | |
| ENST00000651467.1:c.53C>T | ENSP00000499128.1:p.Ala18Val | |
| ENST00000651495.1:c.53C>T | ENSP00000498536.1:p.Ala18Val | |
| ENST00000651516.1:c.53C>T | ENSP00000498873.1:p.Ala18Val | |
| ENST00000651557.1:c.53C>T | ENSP00000498474.1:p.Ala18Val | |
| ENST00000651613.1:c.53C>T | ENSP00000498554.1:p.Ala18Val | |
| ENST00000651811.1:c.53C>T | ENSP00000498472.1:p.Ala18Val | |
| ENST00000651848.1:c.53C>T | ENSP00000498238.1:p.Ala18Val | |
| ENST00000651866.1:c.53C>T | ENSP00000498306.1:p.Ala18Val | |
| ENST00000652028.1:c.53C>T | ENSP00000498928.1:p.Ala18Val | |
| ENST00000652243.1:c.53C>T | ENSP00000498409.1:p.Ala18Val | |
| ENST00000652323.1:c.53C>T | ENSP00000498637.1:p.Ala18Val | |
| ENST00000652463.1:c.53C>T | ENSP00000499087.1:p.Ala18Val | |
| ENST00000652506.1:c.53C>T | ENSP00000498573.1:p.Ala18Val | |
| ENST00000652604.1:c.53C>T | ENSP00000498971.1:p.Ala18Val | |
| ENST00000652649.1:c.*114C>T | ENSP00000499130.1:n.*114C>T | |
| ENST00000239007.11:c.161C>T | ENSP00000239007.7:p.Ala54Val | |
| ENST00000332674.9:c.362C>T MANE Select | ENSP00000331152.5:p.Ala121Val | |
| ENST00000361248.8:c.53C>T | ENSP00000354606.4:p.Ala18Val | |
| ENST00000369612.1:c.53C>T | ENSP00000358625.1:p.Ala18Val | |
| ENST00000393134.5:c.161C>T | ENSP00000376842.1:p.Ala54Val | |
| ENST00000442296.5:c.53C>T | ENSP00000407711.1:p.Ala18Val | |
| ENST00000453116.5:c.362C>T | ENSP00000398981.1:p.Ala121Val | |
| ENST00000460667.5:n.337C>T | ||
| ENST00000484030.5:n.109C>T | ||
| ENST00000485566.1:n.634C>T | ||
| NM_001008541.1:c.53C>T | NP_001008541.1:p.Ala18Val | |
| NM_005962.4:c.161C>T | NP_005953.4:p.Ala54Val | |
| NM_130439.3:c.362C>T MANE Select | NP_569157.2:p.Ala121Val | |
| NM_005962.5:c.161C>T | NP_005953.4:p.Ala54Val |