Linked Data
dbSNP Id:
rs764970021
ExAC:
4:155490845 G / A
gnomAD v2:
4-155490845-G-A
gnomAD v3:
4-154569693-G-A
gnomAD v4:
4-154569693-G-A
COSMIC:
COSM6282662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569693G>A , CM000666.2:g.154569693G>A | GRCh38 |
| NC_000004.11:g.155490845G>A , CM000666.1:g.155490845G>A | GRCh37 |
| NC_000004.10:g.155710295G>A | NCBI36 |
| NG_008833.1:g.11714G>A , LRG_558:g.11714G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1138G>A MANE Select | ENSP00000306099.4:p.Gly380Ser | |
| ENST00000302068.8:c.1138G>A | ENSP00000306099.4:p.Gly380Ser | |
| ENST00000502545.5:n.939+386G>A | ||
| ENST00000509493.1:c.481G>A | ENSP00000426757.1:p.Gly161Ser | |
| NM_001184741.1:c.961G>A | NP_001171670.1:p.Gly321Ser | |
| NM_005141.4:c.1138G>A , LRG_558t1:c.1138G>A | NP_005132.2:p.Gly380Ser | |
| NM_001382759.1:c.1006G>A | NP_001369688.1:p.Gly336Ser | |
| NM_001382760.1:c.1138G>A | NP_001369689.1:p.Gly380Ser | |
| NM_001382761.1:c.1138G>A | NP_001369690.1:p.Gly380Ser | |
| NM_001382762.1:c.838G>A | NP_001369691.1:p.Gly280Ser | |
| NM_001382763.1:c.1129G>A | NP_001369692.1:p.Gly377Ser | |
| NM_001382764.1:c.1080+58G>A | NP_001369693.1:n.1080+58G>A | |
| NM_001382765.1:c.1138G>A | NP_001369694.1:p.Gly380Ser | |
| NM_005141.5:c.1138G>A MANE Select | NP_005132.2:p.Gly380Ser |