Linked Data
ClinVar Variation Id:
216367
dbSNP Id:
rs143494325
ExAC:
9:98270531 C / T
gnomAD v2:
9-98270531-C-T
gnomAD v3:
9-95508249-C-T
gnomAD v4:
9-95508249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95508249C>T , CM000671.2:g.95508249C>T | GRCh38 |
| NC_000009.11:g.98270531C>T , CM000671.1:g.98270531C>T | GRCh37 |
| NC_000009.10:g.97310352C>T | NCBI36 |
| NG_007664.1:g.13717G>A , LRG_515:g.13717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.4-1650G>A | ENSP00000518556.1:n.4-1650G>A | |
| ENST00000437951.6:c.199-1650G>A MANE Plus Clinical | ENSP00000389744.2:n.199-1650G>A | |
| ENST00000331920.11:c.113G>A MANE Select | ENSP00000332353.6:p.Gly38Glu | |
| ENST00000331920.10:c.113G>A | ENSP00000332353.6:p.Gly38Glu | |
| ENST00000375274.6:c.199-1650G>A | ENSP00000364423.2:n.199-1650G>A | |
| ENST00000430669.6:c.4-1650G>A | ENSP00000410287.2:n.4-1650G>A | |
| ENST00000437951.5:c.4-1650G>A | ENSP00000389744.1:n.4-1650G>A | |
| ENST00000468211.6:c.4-1650G>A | ENSP00000449745.1:n.4-1650G>A | |
| ENST00000551425.1:n.190+8220G>A | ||
| ENST00000551623.1:c.36+8374G>A | ENSP00000447242.1:n.36+8374G>A | |
| NM_000264.3:c.113G>A , LRG_515t1:c.113G>A | NP_000255.2:p.Gly38Glu | |
| NM_001083602.1:c.4-1650G>A , LRG_515t2:c.4-1650G>A | NP_001077071.1:n.4-1650G>A | |
| NM_001083603.1:c.199-1650G>A | NP_001077072.1:n.199-1650G>A | |
| XM_011518868.1:c.113G>A | XP_011517170.1:p.Gly38Glu | |
| XM_011518871.1:c.-60+8220G>A | XP_011517173.1:n.-60+8220G>A | |
| XM_011518874.1:c.113G>A | XP_011517176.1:p.Gly38Glu | |
| NM_000264.4:c.113G>A | NP_000255.2:p.Gly38Glu | |
| NM_001083602.2:c.4-1650G>A | NP_001077071.1:n.4-1650G>A | |
| NM_001083603.2:c.199-1650G>A | NP_001077072.1:n.199-1650G>A | |
| NM_001354918.1:c.113G>A | NP_001341847.1:p.Gly38Glu | |
| NM_001354919.1:c.4-1650G>A | NP_001341848.1:n.4-1650G>A | |
| NR_149061.1:n.301G>A | ||
| NM_000264.5:c.113G>A MANE Select | NP_000255.2:p.Gly38Glu | |
| NM_001354918.2:c.113G>A | NP_001341847.1:p.Gly38Glu | |
| NR_149061.2:n.1018G>A | ||
| NM_001083602.3:c.4-1650G>A | NP_001077071.1:n.4-1650G>A | |
| NM_001083603.3:c.199-1650G>A MANE Plus Clinical | NP_001077072.1:n.199-1650G>A | |
| NM_001354919.2:c.4-1650G>A | NP_001341848.1:n.4-1650G>A |