Linked Data
ClinVar Variation Id:
450497
dbSNP Id:
rs200246759
ExAC:
14:105180855 A / C
gnomAD v2:
14-105180855-A-C
gnomAD v3:
14-104714518-A-C
gnomAD v4:
14-104714518-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714518A>C , CM000676.2:g.104714518A>C | GRCh38 |
| NC_000014.8:g.105180855A>C , CM000676.1:g.105180855A>C | GRCh37 |
| NC_000014.7:g.104251900A>C | NCBI36 |
| NG_027684.1:g.29913A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3356A>C MANE Select | ENSP00000376410.4:p.Asn1119Thr | |
| ENST00000617571.5:c.3352A>C | ENSP00000483829.2:n.3352A>C | |
| ENST00000674520.1:c.3351A>C | ENSP00000502593.1:n.3351A>C | |
| ENST00000674631.1:c.1394A>C | ENSP00000502830.1:p.Asn465Thr | |
| ENST00000674662.1:c.3360A>C | ENSP00000501895.1:n.3360A>C | |
| ENST00000674757.1:c.3361A>C | ENSP00000502202.1:n.3361A>C | |
| ENST00000674822.1:c.3240A>C | ENSP00000501552.1:n.3240A>C | |
| ENST00000674846.1:c.3351A>C | ENSP00000502431.1:n.3351A>C | |
| ENST00000674857.1:c.3345A>C | ENSP00000501687.1:n.3345A>C | |
| ENST00000674960.1:c.3214A>C | ENSP00000501841.1:n.3214A>C | |
| ENST00000674991.1:c.2606A>C | ENSP00000502004.1:p.Asn869Thr | |
| ENST00000675207.1:c.3452A>C | ENSP00000502644.1:p.Asn1151Thr | |
| ENST00000675329.1:c.3332A>C | ENSP00000502287.1:p.Asn1111Thr | |
| ENST00000675481.1:c.3356A>C | ENSP00000502723.1:p.Asn1119Thr | |
| ENST00000675583.1:c.3285A>C | ENSP00000501740.1:n.3285A>C | |
| ENST00000675603.1:n.596A>C | ||
| ENST00000675638.1:c.3275A>C | ENSP00000501647.1:p.Asn1092Thr | |
| ENST00000675724.1:c.3294A>C | ENSP00000502576.1:n.3294A>C | |
| ENST00000675771.1:c.2619A>C | ENSP00000502104.1:n.2619A>C | |
| ENST00000675797.1:c.2761A>C | ENSP00000502023.1:n.2761A>C | |
| ENST00000675809.1:c.3411A>C | ENSP00000502587.1:n.3411A>C | |
| ENST00000675930.1:c.3244A>C | ENSP00000502456.1:p.Thr1082Pro | |
| ENST00000675980.1:c.3374A>C | ENSP00000502520.1:p.Asn1125Thr | |
| ENST00000676016.1:c.3255A>C | ENSP00000502412.1:n.3255A>C | |
| ENST00000676366.1:c.3234-71A>C | ENSP00000501605.1:n.3234-71A>C | |
| ENST00000252527.8:c.1760A>C | ENSP00000252527.8:p.Asn587Thr | |
| ENST00000330634.11:c.3356A>C | ENSP00000376406.3:p.Asn1119Thr | |
| ENST00000392634.8:c.3356A>C | ENSP00000376410.4:p.Asn1119Thr | |
| ENST00000617571.4:c.-778A>C | ENSP00000483829.1:n.-778A>C | |
| NM_001031714.3:c.3356A>C | NP_001026884.3:p.Asn1119Thr | |
| NM_022489.3:c.3356A>C | NP_071934.3:p.Asn1119Thr | |
| XM_005268004.3:c.3452A>C | XP_005268061.1:p.Asn1151Thr | |
| XM_005268005.3:c.3452A>C | XP_005268062.1:p.Asn1151Thr | |
| XR_943507.1:n.3581A>C | ||
| XM_005268004.4:c.3452A>C | XP_005268061.1:p.Asn1151Thr | |
| XM_005268005.4:c.3452A>C | XP_005268062.1:p.Asn1151Thr | |
| XM_017021595.1:c.3452A>C | XP_016877084.1:p.Asn1151Thr | |
| NM_001031714.4:c.3356A>C | NP_001026884.3:p.Asn1119Thr | |
| NM_022489.4:c.3356A>C MANE Select | NP_071934.3:p.Asn1119Thr |