Linked Data
ClinVar Variation Id:
88728
ClinVar RCV Id:
RCV000074387
dbSNP Id:
rs397518466
PubMed:
PMID:23933818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10180410A>G , CM000678.2:g.10180410A>G | GRCh38 |
| NC_000016.9:g.10274267A>G , CM000678.1:g.10274267A>G | GRCh37 |
| NC_000016.8:g.10181768A>G | NCBI36 |
| NG_011812.1:g.7345T>C | |
| NG_011812.2:g.7345T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.2T>C MANE Select | ENSP00000332549.3:p.Met1Thr | |
| ENST00000636406.1:c.2T>C | ENSP00000490676.1:p.Met1Thr | |
| ENST00000637188.1:c.2T>C | ENSP00000489946.1:p.Met1Thr | |
| ENST00000675189.1:n.486T>C | ||
| ENST00000675398.1:c.2T>C | ENSP00000502752.1:p.Met1Thr | |
| ENST00000676032.1:n.435T>C | ||
| ENST00000330684.3:c.2T>C | ENSP00000332549.3:p.Met1Thr | |
| ENST00000396573.6:c.2T>C | ENSP00000379818.2:p.Met1Thr | |
| ENST00000562109.5:c.2T>C | ENSP00000454998.1:p.Met1Thr | |
| ENST00000566665.1:n.403T>C | ||
| NM_000833.4:c.2T>C | NP_000824.1:p.Met1Thr | |
| NM_001134407.2:c.2T>C | NP_001127879.1:p.Met1Thr | |
| NM_001134408.2:c.2T>C | NP_001127880.1:p.Met1Thr | |
| XM_011522461.1:c.2T>C | XP_011520763.1:p.Met1Thr | |
| XM_011522461.3:c.2T>C | XP_011520763.1:p.Met1Thr | |
| XM_017023172.1:c.158T>C | XP_016878661.1:p.Met53Thr | |
| XM_017023173.1:c.158T>C | XP_016878662.1:p.Met53Thr | |
| NM_001134407.3:c.2T>C MANE Select | NP_001127879.1:p.Met1Thr | |
| NM_000833.5:c.2T>C | NP_000824.1:p.Met1Thr |