Linked Data
ClinVar Variation Id:
689636
dbSNP Id:
rs1229650809
gnomAD v2:
20-42984446-T-C
gnomAD v4:
20-44355806-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44355806T>C , CM000682.2:g.44355806T>C | GRCh38 |
| NC_000020.10:g.42984446T>C , CM000682.1:g.42984446T>C | GRCh37 |
| NC_000020.9:g.42417860T>C | NCBI36 |
| NG_009818.1:g.5006T>C , LRG_483:g.5006T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.2T>C MANE Select | ENSP00000315180.4:p.Met1Thr | |
| ENST00000316673.8:c.2T>C | ENSP00000315180.4:p.Met1Thr | |
| ENST00000457232.5:c.2T>C | ENSP00000396216.1:p.Met1Thr | |
| ENST00000609262.5:c.-230T>C | ENSP00000476310.1:n.-230T>C | |
| ENST00000609795.5:c.2T>C | ENSP00000476609.1:p.Met1Thr | |
| ENST00000619550.4:c.-230T>C | ENSP00000481331.1:n.-230T>C | |
| NM_001030003.2:c.2T>C | NP_001025174.1:p.Met1Thr | |
| NM_001030004.2:c.2T>C | NP_001025175.1:p.Met1Thr | |
| NM_001287182.1:c.-230T>C | NP_001274111.1:n.-230T>C | |
| NM_001287183.1:c.-230T>C , LRG_483t3:c.-230T>C | NP_001274112.1:n.-230T>C | |
| NM_001287184.1:c.-230T>C | NP_001274113.1:n.-230T>C | |
| NM_175914.4:c.2T>C , LRG_483t1:c.2T>C | NP_787110.2:p.Met1Thr | |
| NM_001030003.3:c.2T>C | NP_001025174.1:p.Met1Thr | |
| NM_001030004.3:c.2T>C | NP_001025175.1:p.Met1Thr | |
| NM_001287182.2:c.-230T>C | NP_001274111.1:n.-230T>C | |
| NM_001287184.2:c.-230T>C | NP_001274113.1:n.-230T>C | |
| NM_001287183.2:c.-230T>C | NP_001274112.1:n.-230T>C | |
| NM_175914.5:c.2T>C MANE Select | NP_787110.2:p.Met1Thr |