Linked Data
ClinVar Variation Id:
523532
ClinVar RCV Id:
RCV000626958
dbSNP Id:
rs1555375554
gnomAD v4:
14-104714409-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714409A>G , CM000676.2:g.104714409A>G | GRCh38 |
| NC_000014.8:g.105180746A>G , CM000676.1:g.105180746A>G | GRCh37 |
| NC_000014.7:g.104251791A>G | NCBI36 |
| NG_027684.1:g.29804A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3247A>G MANE Select | ENSP00000376410.4:p.Ser1083Gly | |
| ENST00000617571.5:c.3243A>G | ENSP00000483829.2:n.3243A>G | |
| ENST00000674520.1:c.3242A>G | ENSP00000502593.1:n.3242A>G | |
| ENST00000674631.1:c.1285A>G | ENSP00000502830.1:p.Ser429Gly | |
| ENST00000674662.1:c.3251A>G | ENSP00000501895.1:n.3251A>G | |
| ENST00000674757.1:c.3252A>G | ENSP00000502202.1:n.3252A>G | |
| ENST00000674822.1:c.3131A>G | ENSP00000501552.1:n.3131A>G | |
| ENST00000674846.1:c.3242A>G | ENSP00000502431.1:n.3242A>G | |
| ENST00000674857.1:c.3236A>G | ENSP00000501687.1:n.3236A>G | |
| ENST00000674960.1:c.3105A>G | ENSP00000501841.1:n.3105A>G | |
| ENST00000674991.1:c.2497A>G | ENSP00000502004.1:p.Ser833Gly | |
| ENST00000675207.1:c.3343A>G | ENSP00000502644.1:p.Ser1115Gly | |
| ENST00000675329.1:c.3223A>G | ENSP00000502287.1:p.Ser1075Gly | |
| ENST00000675481.1:c.3247A>G | ENSP00000502723.1:p.Ser1083Gly | |
| ENST00000675583.1:c.3176A>G | ENSP00000501740.1:n.3176A>G | |
| ENST00000675603.1:n.487A>G | ||
| ENST00000675638.1:c.3166A>G | ENSP00000501647.1:p.Ser1056Gly | |
| ENST00000675724.1:c.3185A>G | ENSP00000502576.1:n.3185A>G | |
| ENST00000675771.1:c.2510A>G | ENSP00000502104.1:n.2510A>G | |
| ENST00000675797.1:c.2652A>G | ENSP00000502023.1:n.2652A>G | |
| ENST00000675809.1:c.3302A>G | ENSP00000502587.1:n.3302A>G | |
| ENST00000675930.1:c.3233+14A>G | ENSP00000502456.1:n.3233+14A>G | |
| ENST00000675980.1:c.3265A>G | ENSP00000502520.1:p.Ser1089Gly | |
| ENST00000676016.1:c.3146A>G | ENSP00000502412.1:n.3146A>G | |
| ENST00000676366.1:c.3233+14A>G | ENSP00000501605.1:n.3233+14A>G | |
| ENST00000252527.8:c.1651A>G | ENSP00000252527.8:p.Ser551Gly | |
| ENST00000330634.11:c.3247A>G | ENSP00000376406.3:p.Ser1083Gly | |
| ENST00000392634.8:c.3247A>G | ENSP00000376410.4:p.Ser1083Gly | |
| ENST00000617571.4:c.-887A>G | ENSP00000483829.1:n.-887A>G | |
| NM_001031714.3:c.3247A>G | NP_001026884.3:p.Ser1083Gly | |
| NM_022489.3:c.3247A>G | NP_071934.3:p.Ser1083Gly | |
| XM_005268004.3:c.3343A>G | XP_005268061.1:p.Ser1115Gly | |
| XM_005268005.3:c.3343A>G | XP_005268062.1:p.Ser1115Gly | |
| XR_943507.1:n.3472A>G | ||
| XM_005268004.4:c.3343A>G | XP_005268061.1:p.Ser1115Gly | |
| XM_005268005.4:c.3343A>G | XP_005268062.1:p.Ser1115Gly | |
| XM_017021595.1:c.3343A>G | XP_016877084.1:p.Ser1115Gly | |
| NM_001031714.4:c.3247A>G | NP_001026884.3:p.Ser1083Gly | |
| NM_022489.4:c.3247A>G MANE Select | NP_071934.3:p.Ser1083Gly |