Linked Data
ClinVar Variation Id:
382176
dbSNP Id:
rs59962885
ExAC:
2:220285661 G / A
gnomAD v2:
2-220285661-G-A
gnomAD v3:
2-219420939-G-A
gnomAD v4:
2-219420939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420939G>A , CM000664.2:g.219420939G>A | GRCh38 |
| NC_000002.11:g.220285661G>A , CM000664.1:g.220285661G>A | GRCh37 |
| NC_000002.10:g.219993905G>A | NCBI36 |
| NG_008043.1:g.7563G>A , LRG_380:g.7563G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.483G>A | ||
| ENST00000683013.1:n.397G>A | ||
| ENST00000373960.4:c.1009G>A MANE Select | ENSP00000363071.3:p.Ala337Thr | |
| ENST00000373960.3:c.1009G>A | ENSP00000363071.3:p.Ala337Thr | |
| ENST00000477226.5:n.481G>A | ||
| ENST00000492726.1:n.404G>A | ||
| NM_001927.3:c.1009G>A , LRG_380t1:c.1009G>A | NP_001918.3:p.Ala337Thr | |
| NM_001927.4:c.1009G>A MANE Select | NP_001918.3:p.Ala337Thr | |
| NM_001382708.1:c.1006G>A | NP_001369637.1:p.Ala336Thr | |
| NM_001382709.1:c.736-545G>A | NP_001369638.1:n.736-545G>A | |
| NM_001382710.1:c.1009G>A | NP_001369639.1:p.Ala337Thr | |
| NM_001382711.1:c.1009G>A | NP_001369640.1:p.Ala337Thr | |
| NM_001382712.1:c.1009G>A | NP_001369641.1:p.Ala337Thr | |
| NM_001382713.1:c.739G>A | NP_001369642.1:p.Ala247Thr |