Linked Data
ClinVar Variation Id:
184428
dbSNP Id:
rs786201457
gnomAD v2:
17-29588816-A-C
gnomAD v3:
17-31261798-A-C
gnomAD v4:
17-31261798-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31261798A>C , CM000679.2:g.31261798A>C | GRCh38 |
| NC_000017.10:g.29588816A>C , CM000679.1:g.29588816A>C | GRCh37 |
| NC_000017.9:g.26612942A>C | NCBI36 |
| NG_009018.1:g.171822A>C , LRG_214:g.171822A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.467A>C | ENSP00000492721.2:p.Gln156Pro | |
| ENST00000696138.1:c.4647A>C | ENSP00000512431.1:p.Ala1549= | |
| ENST00000696140.1:n.771A>C | ||
| ENST00000696141.1:c.656A>C | ||
| ENST00000687863.1:n.1310A>C | ||
| ENST00000691014.1:c.4695A>C | ENSP00000510595.1:p.Ala1565= | |
| ENST00000358273.9:c.4665A>C MANE Select | ENSP00000351015.4:p.Ala1555= | |
| ENST00000356175.7:c.4602A>C | ENSP00000348498.3:p.Ala1534= | |
| ENST00000358273.8:c.4665A>C | ENSP00000351015.4:p.Ala1555= | |
| ENST00000456735.6:c.3600A>C | ENSP00000389907.2:p.Ala1200= | |
| ENST00000493220.5:n.3138A>C | ||
| ENST00000579081.5:c.4704A>C | ENSP00000462408.1:p.Ala1568= | |
| NM_000267.3:c.4602A>C , LRG_214t1:c.4602A>C | NP_000258.1:p.Ala1534= | |
| NM_001042492.2:c.4665A>C , LRG_214t2:c.4665A>C | NP_001035957.1:p.Ala1555= | |
| XM_005257983.1:c.4665A>C | XP_005258040.1:p.Ala1555= | |
| XM_005257984.1:c.4602A>C | XP_005258041.1:p.Ala1534= | |
| XM_006721922.1:c.4695A>C | XP_006721985.1:p.Ala1565= | |
| XM_006721923.2:c.4656A>C | XP_006721986.1:p.Ala1552= | |
| XM_006721924.1:c.4695A>C | XP_006721987.1:p.Ala1565= | |
| XM_006721925.1:c.4632A>C | XP_006721988.1:p.Ala1544= | |
| XM_006721926.2:c.4695A>C | XP_006721989.1:p.Ala1565= | |
| XM_006721927.1:c.4695A>C | XP_006721990.1:p.Ala1565= | |
| XM_006721928.2:c.4695A>C | XP_006721991.1:p.Ala1565= | |
| XM_011524852.1:c.4692A>C | XP_011523154.1:p.Ala1564= | |
| XM_011524853.1:c.4656A>C | XP_011523155.1:p.Ala1552= | |
| XM_011524854.1:c.4656A>C | XP_011523156.1:p.Ala1552= | |
| XM_011524855.1:c.4656A>C | XP_011523157.1:p.Ala1552= | |
| XM_011524856.1:c.4656A>C | XP_011523158.1:p.Ala1552= | |
| XM_011524857.1:c.4695A>C | XP_011523159.1:p.Ala1565= | |
| NM_001042492.3:c.4665A>C MANE Select | NP_001035957.1:p.Ala1555= |