Linked Data
ClinVar Variation Id:
439827
dbSNP Id:
rs376067427
ExAC:
14:105179788 A / C
gnomAD v2:
14-105179788-A-C
gnomAD v3:
14-104713451-A-C
gnomAD v4:
14-104713451-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104713451A>C , CM000676.2:g.104713451A>C | GRCh38 |
| NC_000014.8:g.105179788A>C , CM000676.1:g.105179788A>C | GRCh37 |
| NC_000014.7:g.104250833A>C | NCBI36 |
| NG_027684.1:g.28846A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2885A>C MANE Select | ENSP00000376410.4:p.Lys962Thr | |
| ENST00000617571.5:c.2881A>C | ENSP00000483829.2:p.Arg961= | |
| ENST00000674520.1:c.2880A>C | ENSP00000502593.1:n.2880A>C | |
| ENST00000674631.1:c.923A>C | ENSP00000502830.1:p.Lys308Thr | |
| ENST00000674662.1:c.2889A>C | ENSP00000501895.1:n.2889A>C | |
| ENST00000674757.1:c.2890A>C | ENSP00000502202.1:p.Arg964= | |
| ENST00000674822.1:c.2769A>C | ENSP00000501552.1:n.2769A>C | |
| ENST00000674846.1:c.2880A>C | ENSP00000502431.1:n.2880A>C | |
| ENST00000674857.1:c.2874A>C | ENSP00000501687.1:n.2874A>C | |
| ENST00000674960.1:c.2743A>C | ENSP00000501841.1:n.2743A>C | |
| ENST00000674991.1:c.2135A>C | ENSP00000502004.1:p.Lys712Thr | |
| ENST00000674994.1:c.2851A>C | ENSP00000502442.1:n.2851A>C | |
| ENST00000675207.1:c.2981A>C | ENSP00000502644.1:p.Lys994Thr | |
| ENST00000675329.1:c.2861A>C | ENSP00000502287.1:p.Lys954Thr | |
| ENST00000675481.1:c.2885A>C | ENSP00000502723.1:p.Lys962Thr | |
| ENST00000675583.1:c.2814A>C | ENSP00000501740.1:n.2814A>C | |
| ENST00000675603.1:n.12A>C | ||
| ENST00000675638.1:c.2885A>C | ENSP00000501647.1:p.Lys962Thr | |
| ENST00000675724.1:c.2823A>C | ENSP00000502576.1:n.2823A>C | |
| ENST00000675771.1:c.2148A>C | ENSP00000502104.1:n.2148A>C | |
| ENST00000675797.1:c.2290A>C | ENSP00000502023.1:n.2290A>C | |
| ENST00000675809.1:c.2940A>C | ENSP00000502587.1:n.2940A>C | |
| ENST00000675930.1:c.2885A>C | ENSP00000502456.1:p.Lys962Thr | |
| ENST00000675980.1:c.2903A>C | ENSP00000502520.1:p.Lys968Thr | |
| ENST00000676016.1:c.2784A>C | ENSP00000502412.1:n.2784A>C | |
| ENST00000676366.1:c.2885A>C | ENSP00000501605.1:p.Lys962Thr | |
| ENST00000252527.8:c.1289A>C | ENSP00000252527.8:p.Lys430Thr | |
| ENST00000330634.11:c.2885A>C | ENSP00000376406.3:p.Lys962Thr | |
| ENST00000392634.8:c.2885A>C | ENSP00000376410.4:p.Lys962Thr | |
| ENST00000477497.1:n.390A>C | ||
| ENST00000617571.4:c.-1249A>C | ENSP00000483829.1:n.-1249A>C | |
| NM_001031714.3:c.2885A>C | NP_001026884.3:p.Lys962Thr | |
| NM_022489.3:c.2885A>C | NP_071934.3:p.Lys962Thr | |
| XM_005268004.3:c.2981A>C | XP_005268061.1:p.Lys994Thr | |
| XM_005268005.3:c.2981A>C | XP_005268062.1:p.Lys994Thr | |
| XR_943507.1:n.3110A>C | ||
| XM_005268004.4:c.2981A>C | XP_005268061.1:p.Lys994Thr | |
| XM_005268005.4:c.2981A>C | XP_005268062.1:p.Lys994Thr | |
| XM_017021595.1:c.2981A>C | XP_016877084.1:p.Lys994Thr | |
| NM_001031714.4:c.2885A>C | NP_001026884.3:p.Lys962Thr | |
| NM_022489.4:c.2885A>C MANE Select | NP_071934.3:p.Lys962Thr |