Linked Data
dbSNP Id:
rs767166903
ExAC:
2:203242228 G / T
gnomAD v3:
2-202377505-G-T
gnomAD v4:
2-202377505-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377505G>T , CM000664.2:g.202377505G>T | GRCh38 |
| NC_000002.11:g.203242228G>T , CM000664.1:g.203242228G>T | GRCh37 |
| NC_000002.10:g.202950473G>T | NCBI36 |
| NG_009363.1:g.6179G>T , LRG_712:g.6179G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.31G>T MANE Select | ENSP00000363708.4:p.Val11Leu | |
| ENST00000374574.2:c.31G>T | ENSP00000363702.2:p.Val11Leu | |
| ENST00000374580.8:c.31G>T | ENSP00000363708.4:p.Val11Leu | |
| NM_001204.6:c.31G>T , LRG_712t1:c.31G>T | NP_001195.2:p.Val11Leu | |
| XM_011511687.1:c.31G>T | XP_011509989.1:p.Val11Leu | |
| XM_011511688.1:c.31G>T | XP_011509990.1:p.Val11Leu | |
| NM_001204.7:c.31G>T MANE Select | NP_001195.2:p.Val11Leu |