Linked Data
ClinVar Variation Id:
52546
dbSNP Id:
rs80359073
gnomAD v2:
13-32937663-T-C
gnomAD v3:
13-32363526-T-C
gnomAD v4:
13-32363526-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32363526T>C , CM000675.2:g.32363526T>C | GRCh38 |
| NC_000013.10:g.32937663T>C , CM000675.1:g.32937663T>C | GRCh37 |
| NC_000013.9:g.31835663T>C | NCBI36 |
| NG_012772.3:g.53047T>C , LRG_293:g.53047T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8324T>C | ENSP00000434898.2:p.Met2775Thr | |
| ENST00000528762.2:c.8324T>C | ENSP00000433168.2:p.Met2775Thr | |
| ENST00000530893.7:c.7955T>C | ENSP00000499438.2:p.Met2652Thr | |
| ENST00000665585.2:c.8324T>C | ENSP00000499570.2:p.Met2775Thr | |
| ENST00000666593.2:c.8324T>C | ENSP00000499256.2:p.Met2775Thr | |
| ENST00000700202.2:c.8324T>C | ENSP00000514856.2:p.Met2775Thr | |
| ENST00000700202.1:c.791T>C | ENSP00000514856.1:p.Met264Thr | |
| ENST00000380152.8:c.8324T>C MANE Select | ENSP00000369497.3:p.Met2775Thr | |
| ENST00000544455.6:c.8324T>C | ENSP00000439902.1:p.Met2775Thr | |
| ENST00000614259.2:c.8332T>C | ENSP00000506251.1:n.8332T>C | |
| ENST00000665585.1:c.889T>C | ||
| ENST00000680887.1:c.8324T>C | ENSP00000505508.1:p.Met2775Thr | |
| ENST00000380152.7:c.8324T>C | ENSP00000369497.3:p.Met2775Thr | |
| ENST00000544455.5:c.8324T>C | ENSP00000439902.1:p.Met2775Thr | |
| NM_000059.3:c.8324T>C , LRG_293t1:c.8324T>C | NP_000050.2:p.Met2775Thr | |
| XM_011535203.1:c.8324T>C | XP_011533505.1:p.Met2775Thr | |
| XM_011535204.1:c.8228T>C | XP_011533506.1:p.Met2743Thr | |
| XM_011535205.1:c.8324T>C | XP_011533507.1:p.Met2775Thr | |
| NM_000059.4:c.8324T>C MANE Select | NP_000050.3:p.Met2775Thr |