Linked Data
ClinVar Variation Id:
402210
ClinVar RCV Id:
RCV002230083
dbSNP Id:
rs199768740
ExAC:
12:66935707 C / T
gnomAD v2:
12-66935707-C-T
gnomAD v3:
12-66541927-C-T
gnomAD v4:
12-66541927-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66541927C>T , CM000674.2:g.66541927C>T | GRCh38 |
| NC_000012.11:g.66935707C>T , CM000674.1:g.66935707C>T | GRCh37 |
| NC_000012.10:g.65221974C>T | NCBI36 |
| NG_021400.1:g.142219G>A | |
| NG_021400.2:g.532339G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696989.1:c.385G>A | ENSP00000513025.1:p.Val129Ile | |
| ENST00000359742.9:c.160G>A MANE Select | ENSP00000352780.4:p.Val54Ile | |
| ENST00000359742.8:c.160G>A | ENSP00000352780.4:p.Val54Ile | |
| ENST00000398016.7:c.160G>A | ENSP00000381098.3:p.Val54Ile | |
| ENST00000536215.5:c.-9G>A | ENSP00000446011.1:n.-9G>A | |
| ENST00000538211.5:c.160G>A | ENSP00000446047.1:p.Val54Ile | |
| ENST00000538373.1:c.-9G>A | ENSP00000446067.1:n.-9G>A | |
| ENST00000539540.5:c.-9G>A | ENSP00000443392.1:n.-9G>A | |
| ENST00000540433.5:c.-9G>A | ENSP00000446024.1:n.-9G>A | |
| ENST00000541947.1:c.238G>A | ENSP00000438921.1:p.Val80Ile | |
| ENST00000542309.5:c.-9G>A | ENSP00000438500.1:n.-9G>A | |
| ENST00000545666.5:c.79G>A | ENSP00000439124.2:p.Val27Ile | |
| NM_001178074.1:c.160G>A | NP_001171545.1:p.Val54Ile | |
| NM_021150.3:c.160G>A | NP_066973.2:p.Val54Ile | |
| XM_005268754.3:c.163G>A | XP_005268811.1:p.Val55Ile | |
| XM_005268757.3:c.82G>A | XP_005268814.1:p.Val28Ile | |
| XM_011538089.1:c.385G>A | XP_011536391.1:p.Val129Ile | |
| XM_011538090.1:c.385G>A | XP_011536392.1:p.Val129Ile | |
| XM_011538091.1:c.385G>A | XP_011536393.1:p.Val129Ile | |
| XM_011538092.1:c.385G>A | XP_011536394.1:p.Val129Ile | |
| XM_011538093.1:c.160G>A | XP_011536395.1:p.Val54Ile | |
| XM_011538094.1:c.-9G>A | XP_011536396.1:n.-9G>A | |
| NM_001366722.1:c.160G>A MANE Select | NP_001353651.1:p.Val54Ile | |
| NM_001366723.1:c.238G>A | NP_001353652.1:p.Val80Ile | |
| NM_001366724.1:c.238G>A | NP_001353653.1:p.Val80Ile | |
| XM_005268754.4:c.163G>A | XP_005268811.1:p.Val55Ile | |
| XM_005268757.4:c.82G>A | XP_005268814.1:p.Val28Ile | |
| XM_017019098.1:c.385G>A | XP_016874587.1:p.Val129Ile | |
| XM_017019099.1:c.238G>A | XP_016874588.1:p.Val80Ile | |
| XM_017019100.1:c.385G>A | XP_016874589.1:p.Val129Ile | |
| NM_001178074.2:c.160G>A | NP_001171545.1:p.Val54Ile | |
| NM_021150.4:c.160G>A | NP_066973.2:p.Val54Ile | |
| NM_001379345.1:c.238G>A | NP_001366274.1:p.Val80Ile | |
| NM_001379346.1:c.160G>A | NP_001366275.1:p.Val54Ile | |
| NM_001379347.1:c.238G>A | NP_001366276.1:p.Val80Ile | |
| NM_001379348.1:c.238G>A | NP_001366277.1:p.Val80Ile | |
| NM_001379349.1:c.163G>A | NP_001366278.1:p.Val55Ile | |
| NM_001379351.1:c.163G>A | NP_001366280.1:p.Val55Ile |