Linked Data
dbSNP Id:
rs921122
ExAC:
9:95063947 C / T
gnomAD v2:
9-95063947-C-T
gnomAD v3:
9-92301665-C-T
gnomAD v4:
9-92301665-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92301665C>T , CM000671.2:g.92301665C>T | GRCh38 |
| NC_000009.11:g.95063947C>T , CM000671.1:g.95063947C>T | GRCh37 |
| NC_000009.10:g.94103768C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442668.7:c.3061G>A MANE Select | ENSP00000401177.2:p.Gly1021Ser | |
| ENST00000358855.8:c.2857G>A | ENSP00000351723.4:p.Gly953Ser | |
| ENST00000360868.7:c.*2916G>A | ENSP00000354115.3:n.*2916G>A | |
| ENST00000442668.6:c.3061G>A | ENSP00000401177.2:p.Gly1021Ser | |
| ENST00000477862.1:n.421G>A | ||
| ENST00000535387.5:c.2947G>A | ENSP00000441300.1:p.Gly983Ser | |
| ENST00000536593.5:c.*2916G>A | ENSP00000446265.1:n.*2916G>A | |
| ENST00000542053.5:c.2857G>A | ENSP00000440709.1:p.Gly953Ser | |
| ENST00000544867.5:c.3061G>A | ENSP00000439751.1:p.Gly1021Ser | |
| ENST00000545444.5:c.*591G>A | ENSP00000439829.1:n.*591G>A | |
| ENST00000545558.5:c.3061G>A | ENSP00000441140.1:p.Gly1021Ser | |
| NM_001256394.1:c.2857G>A | NP_001243323.1:p.Gly953Ser | |
| NM_017948.5:c.3061G>A | NP_060418.4:p.Gly1021Ser | |
| NR_046106.1:n.3398G>A | ||
| XM_006717166.2:c.3061G>A | XP_006717229.1:p.Gly1021Ser | |
| XM_006717167.2:c.3061G>A | XP_006717230.1:p.Gly1021Ser | |
| XM_006717168.2:c.2947G>A | XP_006717231.1:p.Gly983Ser | |
| XM_006717169.2:c.2857G>A | XP_006717232.1:p.Gly953Ser | |
| XM_006717170.2:c.2857G>A | XP_006717233.1:p.Gly953Ser | |
| XM_006717172.2:c.2683G>A | XP_006717235.1:p.Gly895Ser | |
| XM_006717173.2:c.2683G>A | XP_006717236.1:p.Gly895Ser | |
| XM_011518824.1:c.2857G>A | XP_011517126.1:p.Gly953Ser | |
| XM_011518825.1:c.2857G>A | XP_011517127.1:p.Gly953Ser | |
| XM_011518826.1:c.3061G>A | XP_011517128.1:p.Gly1021Ser | |
| XM_011518827.1:c.2683G>A | XP_011517129.1:p.Gly895Ser | |
| XM_011518828.1:c.2458G>A | XP_011517130.1:p.Gly820Ser | |
| NM_001330722.1:c.2947G>A | NP_001317651.1:p.Gly983Ser | |
| XM_006717166.4:c.3061G>A | XP_006717229.1:p.Gly1021Ser | |
| XM_006717167.3:c.3061G>A | XP_006717230.1:p.Gly1021Ser | |
| XM_006717169.4:c.2857G>A | XP_006717232.1:p.Gly953Ser | |
| XM_006717170.4:c.2857G>A | XP_006717233.1:p.Gly953Ser | |
| XM_006717172.4:c.2683G>A | XP_006717235.1:p.Gly895Ser | |
| XM_006717173.4:c.2683G>A | XP_006717236.1:p.Gly895Ser | |
| XM_011518824.3:c.2857G>A | XP_011517126.1:p.Gly953Ser | |
| XM_011518827.2:c.2683G>A | XP_011517129.1:p.Gly895Ser | |
| XM_017014876.2:c.2947G>A | XP_016870365.1:p.Gly983Ser | |
| XM_017014877.2:c.2743G>A | XP_016870366.1:p.Gly915Ser | |
| XM_017014878.2:c.2683G>A | XP_016870367.1:p.Gly895Ser | |
| XM_017014879.1:c.2683G>A | XP_016870368.1:p.Gly895Ser | |
| XM_017014880.2:c.2569G>A | XP_016870369.1:p.Gly857Ser | |
| XM_024447594.1:c.2857G>A | XP_024303362.1:p.Gly953Ser | |
| XM_024447595.1:c.2683G>A | XP_024303363.1:p.Gly895Ser | |
| XR_001746333.2:n.3162G>A | ||
| XR_001746334.2:n.3289G>A | ||
| NM_017948.6:c.3061G>A MANE Select | NP_060418.4:p.Gly1021Ser | |
| NM_001256394.2:c.2857G>A | NP_001243323.1:p.Gly953Ser | |
| NM_001330722.2:c.2947G>A | NP_001317651.1:p.Gly983Ser | |
| NR_046106.2:n.3154G>A |