Linked Data
ClinVar Variation Id:
282570
dbSNP Id:
rs759003992
ExAC:
2:219646907 T / C
gnomAD v2:
2-219646907-T-C
gnomAD v3:
2-218782184-T-C
gnomAD v4:
2-218782184-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782184T>C , CM000664.2:g.218782184T>C | GRCh38 |
| NC_000002.11:g.219646907T>C , CM000664.1:g.219646907T>C | GRCh37 |
| NC_000002.10:g.219355151T>C | NCBI36 |
| NG_007959.1:g.5436T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.2T>C MANE Select | ENSP00000258415.4:p.Met1Thr | |
| ENST00000258415.8:c.2T>C | ENSP00000258415.4:p.Met1Thr | |
| ENST00000445971.1:c.2T>C | ENSP00000404945.1:p.Met1Thr | |
| ENST00000466602.1:n.11T>C | ||
| ENST00000494263.5:n.436T>C | ||
| NM_000784.3:c.2T>C | NP_000775.1:p.Met1Thr | |
| XM_017003488.2:c.-228T>C | XP_016858977.1:n.-228T>C | |
| NM_000784.4:c.2T>C MANE Select | NP_000775.1:p.Met1Thr |