Linked Data
ClinVar Variation Id:
281718
dbSNP Id:
rs779794737
ExAC:
2:219677721 G / T
gnomAD v2:
2-219677721-G-T
gnomAD v4:
2-218812998-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812998G>T , CM000664.2:g.218812998G>T | GRCh38 |
| NC_000002.11:g.219677721G>T , CM000664.1:g.219677721G>T | GRCh37 |
| NC_000002.10:g.219385965G>T | NCBI36 |
| NG_007959.1:g.36250G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.919G>T MANE Select | ENSP00000258415.4:p.Val307Leu | |
| ENST00000258415.8:c.919G>T | ENSP00000258415.4:p.Val307Leu | |
| ENST00000411688.1:c.637G>T | ENSP00000392671.1:p.Val213Leu | |
| ENST00000445971.1:c.*380G>T | ENSP00000404945.1:n.*380G>T | |
| ENST00000466602.1:n.1041G>T | ||
| ENST00000494263.5:n.1353G>T | ||
| NM_000784.3:c.919G>T | NP_000775.1:p.Val307Leu | |
| XM_017003488.2:c.499G>T | XP_016858977.1:p.Val167Leu | |
| NM_000784.4:c.919G>T MANE Select | NP_000775.1:p.Val307Leu |