Linked Data
ClinVar Variation Id:
457716
dbSNP Id:
rs767438491
ExAC:
17:29592278 G / T
gnomAD v2:
17-29592278-G-T
gnomAD v4:
17-31265260-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31265260G>T , CM000679.2:g.31265260G>T | GRCh38 |
| NC_000017.10:g.29592278G>T , CM000679.1:g.29592278G>T | GRCh37 |
| NC_000017.9:g.26616404G>T | NCBI36 |
| NG_009018.1:g.175284G>T , LRG_214:g.175284G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.558G>T | ENSP00000492721.2:n.558G>T | |
| ENST00000696138.1:c.4738G>T | ENSP00000512431.1:p.Ala1580Ser | |
| ENST00000696140.1:n.862G>T | ||
| ENST00000696141.1:c.747G>T | ||
| ENST00000687863.1:n.1401G>T | ||
| ENST00000691014.1:c.4786G>T | ENSP00000510595.1:p.Ala1596Ser | |
| ENST00000358273.9:c.4756G>T MANE Select | ENSP00000351015.4:p.Ala1586Ser | |
| ENST00000356175.7:c.4693G>T | ENSP00000348498.3:p.Ala1565Ser | |
| ENST00000358273.8:c.4756G>T | ENSP00000351015.4:p.Ala1586Ser | |
| ENST00000456735.6:c.3691G>T | ENSP00000389907.2:p.Ala1231Ser | |
| ENST00000493220.5:n.3229G>T | ||
| ENST00000579081.5:c.4795G>T | ENSP00000462408.1:p.Ala1599Ser | |
| NM_000267.3:c.4693G>T , LRG_214t1:c.4693G>T | NP_000258.1:p.Ala1565Ser | |
| NM_001042492.2:c.4756G>T , LRG_214t2:c.4756G>T | NP_001035957.1:p.Ala1586Ser | |
| XM_005257983.1:c.4756G>T | XP_005258040.1:p.Ala1586Ser | |
| XM_005257984.1:c.4693G>T | XP_005258041.1:p.Ala1565Ser | |
| XM_006721922.1:c.4786G>T | XP_006721985.1:p.Ala1596Ser | |
| XM_006721923.2:c.4747G>T | XP_006721986.1:p.Ala1583Ser | |
| XM_006721924.1:c.4786G>T | XP_006721987.1:p.Ala1596Ser | |
| XM_006721925.1:c.4723G>T | XP_006721988.1:p.Ala1575Ser | |
| XM_006721926.2:c.4786G>T | XP_006721989.1:p.Ala1596Ser | |
| XM_006721927.1:c.4786G>T | XP_006721990.1:p.Ala1596Ser | |
| XM_006721928.2:c.4786G>T | XP_006721991.1:p.Ala1596Ser | |
| XM_011524852.1:c.4783G>T | XP_011523154.1:p.Ala1595Ser | |
| XM_011524853.1:c.4747G>T | XP_011523155.1:p.Ala1583Ser | |
| XM_011524854.1:c.4747G>T | XP_011523156.1:p.Ala1583Ser | |
| XM_011524855.1:c.4747G>T | XP_011523157.1:p.Ala1583Ser | |
| XM_011524856.1:c.4747G>T | XP_011523158.1:p.Ala1583Ser | |
| XM_011524857.1:c.4786G>T | XP_011523159.1:p.Ala1596Ser | |
| NM_001042492.3:c.4756G>T MANE Select | NP_001035957.1:p.Ala1586Ser |