Linked Data
ClinVar Variation Id:
253018
dbSNP Id:
rs200826424
ExAC:
13:50123666 G / A
gnomAD v2:
13-50123666-G-A
gnomAD v3:
13-49549530-G-A
gnomAD v4:
13-49549530-G-A
PubMed:
PMID:27486781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49549530G>A , CM000675.2:g.49549530G>A | GRCh38 |
| NC_000013.10:g.50123666G>A , CM000675.1:g.50123666G>A | GRCh37 |
| NC_000013.9:g.49021667G>A | NCBI36 |
| NG_046892.1:g.41077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378302.7:c.973C>T MANE Select | ENSP00000367552.2:p.His325Tyr | |
| ENST00000258646.3:c.973C>T | ENSP00000258646.3:p.His325Tyr | |
| ENST00000378302.6:c.973C>T | ENSP00000367552.2:p.His325Tyr | |
| NM_018191.3:c.973C>T | NP_060661.3:p.His325Tyr | |
| XM_005266441.2:c.973C>T | XP_005266498.1:p.His325Tyr | |
| XM_011535133.1:c.973C>T | XP_011533435.1:p.His325Tyr | |
| XM_011535134.1:c.973C>T | XP_011533436.1:p.His325Tyr | |
| XM_011535135.1:c.586C>T | XP_011533437.1:p.His196Tyr | |
| XR_941613.1:n.1238C>T | ||
| NM_001352500.1:c.973C>T | NP_001339429.1:p.His325Tyr | |
| NM_001352501.1:c.973C>T | NP_001339430.1:p.His325Tyr | |
| NM_001352502.1:c.973C>T | NP_001339431.1:p.His325Tyr | |
| NM_001352503.1:c.973C>T | NP_001339432.1:p.His325Tyr | |
| NM_001352504.1:c.973C>T | NP_001339433.1:p.His325Tyr | |
| NM_001352505.1:c.973C>T | NP_001339434.1:p.His325Tyr | |
| NM_001352506.1:c.394C>T | NP_001339435.1:p.His132Tyr | |
| NR_148015.1:n.1392C>T | ||
| NR_148016.1:n.1348C>T | ||
| XM_011535135.2:c.586C>T | XP_011533437.1:p.His196Tyr | |
| XR_001749596.1:n.1238C>T | ||
| NM_018191.4:c.973C>T MANE Select | NP_060661.3:p.His325Tyr | |
| NM_001352500.2:c.973C>T | NP_001339429.1:p.His325Tyr | |
| NM_001352501.2:c.973C>T | NP_001339430.1:p.His325Tyr | |
| NM_001352502.2:c.973C>T | NP_001339431.1:p.His325Tyr | |
| NM_001352503.2:c.973C>T | NP_001339432.1:p.His325Tyr | |
| NM_001352505.2:c.973C>T | NP_001339434.1:p.His325Tyr | |
| NM_001352506.2:c.394C>T | NP_001339435.1:p.His132Tyr | |
| NR_148015.2:n.1367C>T | ||
| NR_148016.2:n.1323C>T | ||
| NM_001352504.2:c.973C>T | NP_001339433.1:p.His325Tyr |