Linked Data
ClinVar Variation Id:
389475
dbSNP Id:
rs147710123
ExAC:
19:1388847 G / A
gnomAD v2:
19-1388847-G-A
gnomAD v3:
19-1388848-G-A
gnomAD v4:
19-1388848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1388848G>A , CM000681.2:g.1388848G>A | GRCh38 |
| NC_000019.9:g.1388847G>A , CM000681.1:g.1388847G>A | GRCh37 |
| NC_000019.8:g.1339847G>A | NCBI36 |
| NG_008283.1:g.9965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.138G>A MANE Select | ENSP00000233627.9:p.Leu46= | |
| ENST00000233627.13:c.138G>A | ENSP00000233627.9:p.Leu46= | |
| ENST00000313408.11:c.138G>A | ENSP00000364262.5:p.Leu46= | |
| ENST00000414651.3:c.228G>A | ENSP00000406630.2:p.Leu76= | |
| ENST00000436115.6:n.161G>A | ||
| ENST00000534853.5:c.133G>A | ENSP00000442822.1:p.Ala45Thr | |
| ENST00000535382.1:n.390G>A | ||
| ENST00000538523.5:n.194G>A | ||
| ENST00000538662.5:n.165G>A | ||
| ENST00000538929.5:n.228G>A | ||
| ENST00000539480.5:c.138G>A | ENSP00000443273.1:p.Leu46= | |
| ENST00000540530.5:n.129G>A | ||
| ENST00000543289.5:n.628G>A | ||
| ENST00000545446.5:n.429G>A | ||
| ENST00000546172.7:c.*134G>A | ENSP00000467094.1:n.*134G>A | |
| ENST00000546283.5:c.138G>A | ENSP00000440348.1:p.Leu46= | |
| ENST00000618074.4:c.138G>A | ENSP00000477895.1:p.Leu46= | |
| ENST00000620479.4:c.138G>A | ENSP00000480984.1:p.Leu46= | |
| ENST00000622587.4:n.134G>A | ||
| NM_024407.4:c.138G>A | NP_077718.3:p.Leu46= | |
| XM_005259556.3:c.138G>A | XP_005259613.2:p.Leu46= | |
| NM_001363602.1:c.138G>A | NP_001350531.1:p.Leu46= | |
| XM_017026768.2:c.138G>A | XP_016882257.2:p.Leu46= | |
| XM_024451499.1:c.159G>A | XP_024307267.1:p.Leu53= | |
| NM_024407.5:c.138G>A MANE Select | NP_077718.3:p.Leu46= | |
| NM_001363602.2:c.138G>A | NP_001350531.1:p.Leu46= |