Linked Data
dbSNP Id:
rs535301460
ExAC:
15:68628108 G / A
gnomAD v2:
15-68628108-G-A
gnomAD v3:
15-68335770-G-A
gnomAD v4:
15-68335770-G-A
COSMIC:
COSM3771877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68335770G>A , CM000677.2:g.68335770G>A | GRCh38 |
| NC_000015.9:g.68628108G>A , CM000677.1:g.68628108G>A | GRCh37 |
| NC_000015.8:g.66415162G>A | NCBI36 |
| NG_046911.1:g.101391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.1352C>T MANE Select | ENSP00000327290.7:p.Thr451Met | |
| ENST00000315757.8:c.1352C>T | ENSP00000327290.7:p.Thr451Met | |
| ENST00000423218.6:c.1352C>T | ENSP00000403392.2:p.Thr451Met | |
| ENST00000566429.1:n.241C>T | ||
| ENST00000569346.5:n.331C>T | ||
| NM_001004439.1:c.1352C>T | NP_001004439.1:p.Thr451Met | |
| XM_005254228.2:c.1046C>T | XP_005254285.1:p.Thr349Met | |
| XM_011521363.1:c.1145C>T | XP_011519665.1:p.Thr382Met | |
| XM_005254228.3:c.1046C>T | XP_005254285.1:p.Thr349Met | |
| XM_011521363.2:c.1145C>T | XP_011519665.1:p.Thr382Met | |
| NM_001004439.2:c.1352C>T MANE Select | NP_001004439.1:p.Thr451Met |