Linked Data
dbSNP Id:
rs1056513
ExAC:
1:62380298 G / A
gnomAD v2:
1-62380298-G-A
gnomAD v3:
1-61914626-G-A
gnomAD v4:
1-61914626-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.61914626G>A , CM000663.2:g.61914626G>A | GRCh38 |
| NC_000001.10:g.62380298G>A , CM000663.1:g.62380298G>A | GRCh37 |
| NC_000001.9:g.62152886G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642238.2:c.3532G>A MANE Select | ENSP00000494277.1:p.Gly1178Ser | |
| ENST00000316485.11:c.3491-3398G>A | ENSP00000326199.7:n.3491-3398G>A | |
| ENST00000371158.6:c.3532G>A | ENSP00000360200.2:p.Gly1178Ser | |
| ENST00000459752.5:n.3646G>A | ||
| ENST00000484562.5:n.3646G>A | ||
| ENST00000484937.5:c.1909G>A | ENSP00000433669.1:p.Gly637Ser | |
| ENST00000494842.2:c.68G>A | ||
| ENST00000613764.4:c.3381+13167G>A | ENSP00000479041.1:n.3381+13167G>A | |
| ENST00000635023.1:c.*1500G>A | ENSP00000489335.1:n.*1500G>A | |
| ENST00000635214.1:n.3646G>A | ||
| NM_176877.2:c.3532G>A | NP_795352.2:p.Gly1178Ser | |
| XM_005270341.2:c.3532G>A | XP_005270398.1:p.Gly1178Ser | |
| XM_005270347.1:c.3532G>A | XP_005270404.1:p.Gly1178Ser | |
| XM_006710278.2:c.3532G>A | XP_006710341.1:p.Gly1178Ser | |
| XM_011540462.1:c.3532G>A | XP_011538764.1:p.Gly1178Ser | |
| XM_011540463.1:c.3532G>A | XP_011538765.1:p.Gly1178Ser | |
| XM_011540464.1:c.3532G>A | XP_011538766.1:p.Gly1178Ser | |
| XM_011540465.1:c.3532G>A | XP_011538767.1:p.Gly1178Ser | |
| XM_011540466.1:c.3532G>A | XP_011538768.1:p.Gly1178Ser | |
| XM_011540467.1:c.3532G>A | XP_011538769.1:p.Gly1178Ser | |
| XM_011540468.1:c.3532G>A | XP_011538770.1:p.Gly1178Ser | |
| XM_011540469.1:c.3532G>A | XP_011538771.1:p.Gly1178Ser | |
| NM_001350145.1:c.3532G>A | NP_001337074.1:p.Gly1178Ser | |
| NM_176877.3:c.3532G>A | NP_795352.2:p.Gly1178Ser | |
| XM_005270347.2:c.3532G>A | XP_005270404.1:p.Gly1178Ser | |
| XM_006710278.4:c.3532G>A | XP_006710341.1:p.Gly1178Ser | |
| XM_011540462.3:c.3532G>A | XP_011538764.1:p.Gly1178Ser | |
| XM_011540463.2:c.3532G>A | XP_011538765.1:p.Gly1178Ser | |
| XM_011540464.3:c.3532G>A | XP_011538766.1:p.Gly1178Ser | |
| XM_011540465.3:c.3532G>A | XP_011538767.1:p.Gly1178Ser | |
| XM_011540466.3:c.3532G>A | XP_011538768.1:p.Gly1178Ser | |
| XM_011540467.3:c.3532G>A | XP_011538769.1:p.Gly1178Ser | |
| XM_011540468.3:c.3532G>A | XP_011538770.1:p.Gly1178Ser | |
| XM_011540469.3:c.3532G>A | XP_011538771.1:p.Gly1178Ser | |
| XM_016999998.2:c.3532G>A | XP_016855487.1:p.Gly1178Ser | |
| XM_016999999.2:c.3532G>A | XP_016855488.1:p.Gly1178Ser | |
| XM_017000000.1:c.2623G>A | XP_016855489.1:p.Gly875Ser | |
| XM_017000001.1:c.697G>A | XP_016855490.1:p.Gly233Ser | |
| XM_024448614.1:c.3532G>A | XP_024304382.1:p.Gly1178Ser | |
| XM_024448642.1:c.3532G>A | XP_024304410.1:p.Gly1178Ser | |
| XR_001736900.2:n.3646G>A | ||
| XR_002957157.1:n.3646G>A | ||
| NM_001350145.3:c.3532G>A MANE Select | NP_001337074.2:p.Gly1178Ser | |
| NM_176877.5:c.3532G>A | NP_795352.3:p.Gly1178Ser |