Linked Data
ClinVar Variation Id:
245863
dbSNP Id:
rs201445955
ExAC:
14:105180720 G / A
gnomAD v2:
14-105180720-G-A
gnomAD v3:
14-104714383-G-A
gnomAD v4:
14-104714383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714383G>A , CM000676.2:g.104714383G>A | GRCh38 |
| NC_000014.8:g.105180720G>A , CM000676.1:g.105180720G>A | GRCh37 |
| NC_000014.7:g.104251765G>A | NCBI36 |
| NG_027684.1:g.29778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3221G>A MANE Select | ENSP00000376410.4:p.Arg1074Lys | |
| ENST00000617571.5:c.3217G>A | ENSP00000483829.2:n.3217G>A | |
| ENST00000674520.1:c.3216G>A | ENSP00000502593.1:n.3216G>A | |
| ENST00000674631.1:c.1259G>A | ENSP00000502830.1:p.Arg420Lys | |
| ENST00000674662.1:c.3225G>A | ENSP00000501895.1:n.3225G>A | |
| ENST00000674757.1:c.3226G>A | ENSP00000502202.1:n.3226G>A | |
| ENST00000674822.1:c.3105G>A | ENSP00000501552.1:n.3105G>A | |
| ENST00000674846.1:c.3216G>A | ENSP00000502431.1:n.3216G>A | |
| ENST00000674857.1:c.3210G>A | ENSP00000501687.1:n.3210G>A | |
| ENST00000674960.1:c.3079G>A | ENSP00000501841.1:n.3079G>A | |
| ENST00000674991.1:c.2471G>A | ENSP00000502004.1:p.Arg824Lys | |
| ENST00000675207.1:c.3317G>A | ENSP00000502644.1:p.Arg1106Lys | |
| ENST00000675329.1:c.3197G>A | ENSP00000502287.1:p.Arg1066Lys | |
| ENST00000675481.1:c.3221G>A | ENSP00000502723.1:p.Arg1074Lys | |
| ENST00000675583.1:c.3150G>A | ENSP00000501740.1:n.3150G>A | |
| ENST00000675603.1:n.461G>A | ||
| ENST00000675638.1:c.3140G>A | ENSP00000501647.1:p.Arg1047Lys | |
| ENST00000675724.1:c.3159G>A | ENSP00000502576.1:n.3159G>A | |
| ENST00000675771.1:c.2484G>A | ENSP00000502104.1:n.2484G>A | |
| ENST00000675797.1:c.2626G>A | ENSP00000502023.1:n.2626G>A | |
| ENST00000675809.1:c.3276G>A | ENSP00000502587.1:n.3276G>A | |
| ENST00000675930.1:c.3221G>A | ENSP00000502456.1:p.Arg1074Lys | |
| ENST00000675980.1:c.3239G>A | ENSP00000502520.1:p.Arg1080Lys | |
| ENST00000676016.1:c.3120G>A | ENSP00000502412.1:n.3120G>A | |
| ENST00000676366.1:c.3221G>A | ENSP00000501605.1:p.Arg1074Lys | |
| ENST00000252527.8:c.1625G>A | ENSP00000252527.8:p.Arg542Lys | |
| ENST00000330634.11:c.3221G>A | ENSP00000376406.3:p.Arg1074Lys | |
| ENST00000392634.8:c.3221G>A | ENSP00000376410.4:p.Arg1074Lys | |
| ENST00000617571.4:c.-913G>A | ENSP00000483829.1:n.-913G>A | |
| NM_001031714.3:c.3221G>A | NP_001026884.3:p.Arg1074Lys | |
| NM_022489.3:c.3221G>A | NP_071934.3:p.Arg1074Lys | |
| XM_005268004.3:c.3317G>A | XP_005268061.1:p.Arg1106Lys | |
| XM_005268005.3:c.3317G>A | XP_005268062.1:p.Arg1106Lys | |
| XR_943507.1:n.3446G>A | ||
| XM_005268004.4:c.3317G>A | XP_005268061.1:p.Arg1106Lys | |
| XM_005268005.4:c.3317G>A | XP_005268062.1:p.Arg1106Lys | |
| XM_017021595.1:c.3317G>A | XP_016877084.1:p.Arg1106Lys | |
| NM_001031714.4:c.3221G>A | NP_001026884.3:p.Arg1074Lys | |
| NM_022489.4:c.3221G>A MANE Select | NP_071934.3:p.Arg1074Lys |