Linked Data
ClinVar Variation Id:
2754085
ClinVar RCV Id:
RCV003569157
dbSNP Id:
rs1197750585
gnomAD v2:
6-138197186-G-A
gnomAD v3:
6-137876049-G-A
gnomAD v4:
6-137876049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137876049G>A , CM000668.2:g.137876049G>A | GRCh38 |
| NC_000006.11:g.138197186G>A , CM000668.1:g.138197186G>A | GRCh37 |
| NC_000006.10:g.138238879G>A | NCBI36 |
| NG_032761.1:g.13606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420009.6:c.688G>A | ENSP00000401562.2:p.Gly230Ser | |
| ENST00000711061.1:c.*411G>A | ENSP00000518561.1:n.*411G>A | |
| ENST00000421450.2:c.688G>A | ENSP00000393577.2:p.Gly230Ser | |
| ENST00000433680.2:c.688G>A | ENSP00000409845.2:p.Gly230Ser | |
| ENST00000485192.2:n.1309G>A | ||
| ENST00000698329.1:n.1037G>A | ||
| ENST00000698330.1:n.296-2383G>A | ||
| ENST00000612899.5:c.688G>A MANE Select | ENSP00000481570.1:p.Gly230Ser | |
| ENST00000237289.8:c.688G>A | ENSP00000237289.4:p.Gly230Ser | |
| ENST00000485192.1:n.212G>A | ||
| ENST00000612899.4:c.688G>A | ENSP00000481570.1:p.Gly230Ser | |
| ENST00000614035.4:c.688G>A | ENSP00000481122.2:p.Gly230Ser | |
| ENST00000615468.4:c.*42G>A | ENSP00000479556.1:n.*42G>A | |
| ENST00000619035.4:c.688G>A | ENSP00000478438.1:p.Gly230Ser | |
| ENST00000620204.3:c.688G>A | ENSP00000481454.1:p.Gly230Ser | |
| ENST00000621150.3:c.688G>A | ENSP00000484332.2:p.Gly230Ser | |
| NM_001270507.1:c.688G>A | NP_001257436.1:p.Gly230Ser | |
| NM_001270508.1:c.688G>A | NP_001257437.1:p.Gly230Ser | |
| NM_006290.3:c.688G>A | NP_006281.1:p.Gly230Ser | |
| XM_005267119.1:c.688G>A | XP_005267176.1:p.Gly230Ser | |
| XM_006715555.1:c.49G>A | XP_006715618.1:p.Gly17Ser | |
| XM_011536095.1:c.688G>A | XP_011534397.1:p.Gly230Ser | |
| XM_011536096.1:c.688G>A | XP_011534398.1:p.Gly230Ser | |
| XM_011536096.2:c.688G>A | XP_011534398.1:p.Gly230Ser | |
| XM_024446532.1:c.688G>A | XP_024302300.1:p.Gly230Ser | |
| XM_024446533.1:c.688G>A | XP_024302301.1:p.Gly230Ser | |
| NM_001270508.2:c.688G>A MANE Select | NP_001257437.1:p.Gly230Ser | |
| NM_001270507.2:c.688G>A | NP_001257436.1:p.Gly230Ser | |
| NM_006290.4:c.688G>A | NP_006281.1:p.Gly230Ser |