Linked Data
ClinVar Variation Id:
184711
dbSNP Id:
rs144808600
ExAC:
17:29661926 G / A
gnomAD v2:
17-29661926-G-A
gnomAD v3:
17-31334908-G-A
gnomAD v4:
17-31334908-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31334908G>A , CM000679.2:g.31334908G>A | GRCh38 |
| NC_000017.10:g.29661926G>A , CM000679.1:g.29661926G>A | GRCh37 |
| NC_000017.9:g.26686052G>A | NCBI36 |
| NG_009018.1:g.244932G>A , LRG_214:g.244932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.2071G>A | ENSP00000492721.2:n.2071G>A | |
| ENST00000696138.1:c.5865G>A | ENSP00000512431.1:p.Lys1955= | |
| ENST00000684826.1:c.447G>A | ENSP00000509994.1:p.Lys149= | |
| ENST00000687027.1:c.39G>A | ENSP00000508715.1:p.Lys13= | |
| ENST00000687863.1:n.2528G>A | ||
| ENST00000691014.1:c.5913G>A | ENSP00000510595.1:p.Lys1971= | |
| ENST00000693617.1:c.447G>A | ENSP00000510031.1:p.Lys149= | |
| ENST00000358273.9:c.5883G>A MANE Select | ENSP00000351015.4:p.Lys1961= | |
| ENST00000356175.7:c.5820G>A | ENSP00000348498.3:p.Lys1940= | |
| ENST00000358273.8:c.5883G>A | ENSP00000351015.4:p.Lys1961= | |
| ENST00000456735.6:c.4818G>A | ENSP00000389907.2:p.Lys1606= | |
| ENST00000479536.2:c.308G>A | ||
| ENST00000579081.5:c.6019G>A | ENSP00000462408.1:n.6019G>A | |
| ENST00000581113.6:n.1200G>A | ||
| NM_000267.3:c.5820G>A , LRG_214t1:c.5820G>A | NP_000258.1:p.Lys1940= | |
| NM_001042492.2:c.5883G>A , LRG_214t2:c.5883G>A | NP_001035957.1:p.Lys1961= | |
| XM_005257983.1:c.5883G>A | XP_005258040.1:p.Lys1961= | |
| XM_005257984.1:c.5820G>A | XP_005258041.1:p.Lys1940= | |
| XM_006721922.1:c.5913G>A | XP_006721985.1:p.Lys1971= | |
| XM_006721923.2:c.5874G>A | XP_006721986.1:p.Lys1958= | |
| XM_006721924.1:c.5913G>A | XP_006721987.1:p.Lys1971= | |
| XM_006721925.1:c.5850G>A | XP_006721988.1:p.Lys1950= | |
| XM_006721926.2:c.5913G>A | XP_006721989.1:p.Lys1971= | |
| XM_006721927.1:c.5913G>A | XP_006721990.1:p.Lys1971= | |
| XM_011524852.1:c.5910G>A | XP_011523154.1:p.Lys1970= | |
| XM_011524853.1:c.5874G>A | XP_011523155.1:p.Lys1958= | |
| XM_011524854.1:c.5874G>A | XP_011523156.1:p.Lys1958= | |
| XM_011524855.1:c.5874G>A | XP_011523157.1:p.Lys1958= | |
| XM_011524856.1:c.5874G>A | XP_011523158.1:p.Lys1958= | |
| XM_011524857.1:c.5913G>A | XP_011523159.1:p.Lys1971= | |
| NM_001042492.3:c.5883G>A MANE Select | NP_001035957.1:p.Lys1961= |