Linked Data
ClinVar Variation Id:
2154740
dbSNP Id:
rs758688444
ExAC:
2:203407108 G / T
gnomAD v2:
2-203407108-G-T
gnomAD v3:
2-202542385-G-T
gnomAD v4:
2-202542385-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542385G>T , CM000664.2:g.202542385G>T | GRCh38 |
| NC_000002.11:g.203407108G>T , CM000664.1:g.203407108G>T | GRCh37 |
| NC_000002.10:g.203115353G>T | NCBI36 |
| NG_009363.1:g.171059G>T , LRG_712:g.171059G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1351G>T MANE Select | ENSP00000363708.4:p.Val451Phe | |
| ENST00000638587.1:c.1282G>T | ENSP00000491062.1:p.Val428Phe | |
| ENST00000374574.2:c.1351G>T | ENSP00000363702.2:p.Val451Phe | |
| ENST00000374580.8:c.1351G>T | ENSP00000363708.4:p.Val451Phe | |
| NM_001204.6:c.1351G>T , LRG_712t1:c.1351G>T | NP_001195.2:p.Val451Phe | |
| XM_011511687.1:c.1351G>T | XP_011509989.1:p.Val451Phe | |
| XM_011511688.1:c.1351G>T | XP_011509990.1:p.Val451Phe | |
| NM_001204.7:c.1351G>T MANE Select | NP_001195.2:p.Val451Phe |