Linked Data
dbSNP Id:
rs766086207
gnomAD v2:
2-219757923-G-T
gnomAD v3:
2-218893201-G-T
gnomAD v4:
2-218893201-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893201G>T , CM000664.2:g.218893201G>T | GRCh38 |
| NC_000002.11:g.219757923G>T , CM000664.1:g.219757923G>T | GRCh37 |
| NC_000002.10:g.219466167G>T | NCBI36 |
| NG_012179.1:g.17669G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1184G>T MANE Select | ENSP00000258411.3:p.Arg395Leu | |
| ENST00000258411.7:c.1184G>T | ENSP00000258411.3:p.Arg395Leu | |
| NM_025216.2:c.1184G>T | NP_079492.2:p.Arg395Leu | |
| XM_011511928.1:c.1133G>T | XP_011510230.1:p.Arg378Leu | |
| XM_011511929.1:c.1088G>T | XP_011510231.1:p.Arg363Leu | |
| XM_011511930.1:c.804G>T | XP_011510232.1:p.Pro268= | |
| XM_011511929.2:c.1088G>T | XP_011510231.1:p.Arg363Leu | |
| NM_025216.3:c.1184G>T MANE Select | NP_079492.2:p.Arg395Leu |