Linked Data
dbSNP Id:
rs1296534498
gnomAD v2:
1-206942046-T-A
gnomAD v3:
1-206768701-T-A
gnomAD v4:
1-206768701-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206768701T>A , CM000663.2:g.206768701T>A | GRCh38 |
| NC_000001.10:g.206942046T>A , CM000663.1:g.206942046T>A | GRCh37 |
| NC_000001.9:g.205008669T>A | NCBI36 |
| NG_012088.1:g.8794A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.1477A>T | ||
| ENST00000471071.2:c.217A>T | ENSP00000493073.2:p.Met73Leu | |
| ENST00000640756.2:n.282A>T | ||
| ENST00000659065.2:c.355A>T | ENSP00000499588.1:p.Met119Leu | |
| ENST00000659642.2:c.355A>T | ENSP00000499509.1:p.Met119Leu | |
| ENST00000664374.2:c.355A>T | ENSP00000499664.1:p.Met119Leu | |
| ENST00000640756.1:n.271A>T | ||
| ENST00000659065.1:c.355A>T | ENSP00000499588.1:p.Met119Leu | |
| ENST00000659642.1:c.355A>T | ENSP00000499509.1:p.Met119Leu | |
| ENST00000664374.1:c.355A>T | ENSP00000499664.1:p.Met119Leu | |
| ENST00000423557.1:c.472A>T MANE Select | ENSP00000412237.1:p.Met158Leu | |
| ENST00000471071.1:n.387A>T | ||
| NM_000572.2:c.472A>T | NP_000563.1:p.Met158Leu | |
| XM_011509506.1:c.472A>T | XP_011507808.1:p.Met158Leu | |
| NM_000572.3:c.472A>T MANE Select | NP_000563.1:p.Met158Leu | |
| NM_001382624.1:c.217A>T | NP_001369553.1:p.Met73Leu | |
| NR_168466.1:n.769A>T | ||
| NR_168467.1:n.299A>T |