Linked Data
ClinVar Variation Id:
3221321
ClinVar RCV Id:
RCV004508172
dbSNP Id:
rs763429788
ExAC:
2:203384886 G / T
gnomAD v2:
2-203384886-G-T
gnomAD v4:
2-202520163-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202520163G>T , CM000664.2:g.202520163G>T | GRCh38 |
| NC_000002.11:g.203384886G>T , CM000664.1:g.203384886G>T | GRCh37 |
| NC_000002.10:g.203093131G>T | NCBI36 |
| NG_009363.1:g.148837G>T , LRG_712:g.148837G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.929G>T MANE Select | ENSP00000363708.4:p.Arg310Ile | |
| ENST00000638587.1:c.860G>T | ENSP00000491062.1:p.Arg287Ile | |
| ENST00000374574.2:c.929G>T | ENSP00000363702.2:p.Arg310Ile | |
| ENST00000374580.8:c.929G>T | ENSP00000363708.4:p.Arg310Ile | |
| NM_001204.6:c.929G>T , LRG_712t1:c.929G>T | NP_001195.2:p.Arg310Ile | |
| XM_011511687.1:c.929G>T | XP_011509989.1:p.Arg310Ile | |
| XM_011511688.1:c.929G>T | XP_011509990.1:p.Arg310Ile | |
| NM_001204.7:c.929G>T MANE Select | NP_001195.2:p.Arg310Ile |