Linked Data
ClinVar Variation Id:
414821
dbSNP Id:
rs142903218
ExAC:
6:35427531 T / C
gnomAD v2:
6-35427531-T-C
gnomAD v3:
6-35459754-T-C
gnomAD v4:
6-35459754-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35459754T>C , CM000668.2:g.35459754T>C | GRCh38 |
| NC_000006.11:g.35427531T>C , CM000668.1:g.35427531T>C | GRCh37 |
| NC_000006.10:g.35535509T>C | NCBI36 |
| NG_011708.1:g.12394T>C , LRG_498:g.12394T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.1310T>C | ENSP00000512511.1:p.Met437Thr | |
| ENST00000696265.1:c.1310T>C | ENSP00000512512.1:p.Met437Thr | |
| ENST00000696266.1:c.959T>C | ENSP00000512513.1:p.Met320Thr | |
| ENST00000696267.1:n.1577T>C | ||
| ENST00000696268.1:n.170T>C | ||
| ENST00000229769.3:c.1310T>C MANE Select | ENSP00000229769.2:p.Met437Thr | |
| ENST00000648059.1:c.1310T>C | ENSP00000497902.1:p.Met437Thr | |
| ENST00000229769.2:c.1310T>C | ENSP00000229769.2:p.Met437Thr | |
| NM_021922.2:c.1310T>C , LRG_498t1:c.1310T>C | NP_068741.1:p.Met437Thr | |
| XM_005248885.2:c.1289T>C | XP_005248942.1:p.Met430Thr | |
| XM_005248886.2:c.1241T>C | XP_005248943.1:p.Met414Thr | |
| XM_005248887.2:c.1310T>C | XP_005248944.1:p.Met437Thr | |
| XM_005248888.2:c.1310T>C | XP_005248945.1:p.Met437Thr | |
| XM_011514343.1:c.1016T>C | XP_011512645.1:p.Met339Thr | |
| XM_011514344.1:c.1016T>C | XP_011512646.1:p.Met339Thr | |
| XM_005248888.3:c.1310T>C | XP_005248945.1:p.Met437Thr | |
| XM_011514343.2:c.1016T>C | XP_011512645.1:p.Met339Thr | |
| XR_001743226.1:n.1517T>C | ||
| XR_002956267.1:n.1811T>C | ||
| NM_021922.3:c.1310T>C MANE Select | NP_068741.1:p.Met437Thr |