Linked Data
ClinVar Variation Id:
404514
dbSNP Id:
rs1060500315
gnomAD v2:
17-29560206-C-T
gnomAD v4:
17-31233188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31233188C>T , CM000679.2:g.31233188C>T | GRCh38 |
| NC_000017.10:g.29560206C>T , CM000679.1:g.29560206C>T | GRCh37 |
| NC_000017.9:g.26584332C>T | NCBI36 |
| NG_009018.1:g.143212C>T , LRG_214:g.143212C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.3728C>T | ENSP00000512431.1:p.Ala1243Val | |
| ENST00000696139.1:c.1028C>T | ENSP00000512432.1:p.Ala343Val | |
| ENST00000691014.1:c.3713C>T | ENSP00000510595.1:p.Ala1238Val | |
| ENST00000693210.1:n.409C>T | ||
| ENST00000358273.9:c.3683C>T MANE Select | ENSP00000351015.4:p.Ala1228Val | |
| ENST00000356175.7:c.3683C>T | ENSP00000348498.3:p.Ala1228Val | |
| ENST00000358273.8:c.3683C>T | ENSP00000351015.4:p.Ala1228Val | |
| ENST00000456735.6:c.2681C>T | ENSP00000389907.2:p.Ala894Val | |
| ENST00000466819.5:c.159C>T | ||
| ENST00000479614.1:c.159C>T | ||
| ENST00000493220.5:n.2219C>T | ||
| ENST00000495910.6:c.3458C>T | ||
| ENST00000579081.5:c.3785C>T | ENSP00000462408.1:p.Ala1262Val | |
| NM_000267.3:c.3683C>T , LRG_214t1:c.3683C>T | NP_000258.1:p.Ala1228Val | |
| NM_001042492.2:c.3683C>T , LRG_214t2:c.3683C>T | NP_001035957.1:p.Ala1228Val | |
| XM_005257983.1:c.3683C>T | XP_005258040.1:p.Ala1228Val | |
| XM_005257984.1:c.3683C>T | XP_005258041.1:p.Ala1228Val | |
| XM_006721922.1:c.3713C>T | XP_006721985.1:p.Ala1238Val | |
| XM_006721923.2:c.3674C>T | XP_006721986.1:p.Ala1225Val | |
| XM_006721924.1:c.3713C>T | XP_006721987.1:p.Ala1238Val | |
| XM_006721925.1:c.3713C>T | XP_006721988.1:p.Ala1238Val | |
| XM_006721926.2:c.3713C>T | XP_006721989.1:p.Ala1238Val | |
| XM_006721927.1:c.3713C>T | XP_006721990.1:p.Ala1238Val | |
| XM_006721928.2:c.3713C>T | XP_006721991.1:p.Ala1238Val | |
| XM_011524852.1:c.3710C>T | XP_011523154.1:p.Ala1237Val | |
| XM_011524853.1:c.3674C>T | XP_011523155.1:p.Ala1225Val | |
| XM_011524854.1:c.3674C>T | XP_011523156.1:p.Ala1225Val | |
| XM_011524855.1:c.3674C>T | XP_011523157.1:p.Ala1225Val | |
| XM_011524856.1:c.3674C>T | XP_011523158.1:p.Ala1225Val | |
| XM_011524857.1:c.3713C>T | XP_011523159.1:p.Ala1238Val | |
| NM_001042492.3:c.3683C>T MANE Select | NP_001035957.1:p.Ala1228Val |