Linked Data
dbSNP Id:
rs776469506
ExAC:
17:42452097 T / A
gnomAD v2:
17-42452097-T-A
gnomAD v4:
17-44374729-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374729T>A , CM000679.2:g.44374729T>A | GRCh38 |
| NC_000017.10:g.42452097T>A , CM000679.1:g.42452097T>A | GRCh37 |
| NC_000017.9:g.39807623T>A | NCBI36 |
| NG_008331.1:g.19777A>T , LRG_479:g.19777A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2873A>T MANE Select | ENSP00000262407.5:p.His958Leu | |
| ENST00000648408.1:c.2304A>T | ||
| ENST00000262407.5:c.2873A>T | ENSP00000262407.5:p.His958Leu | |
| ENST00000587295.5:c.253+1104A>T | ||
| ENST00000592462.5:n.2384A>T | ||
| NM_000419.3:c.2873A>T , LRG_479t1:c.2873A>T | NP_000410.2:p.His958Leu | |
| XM_011524749.1:c.2842-259A>T | XP_011523051.1:n.2842-259A>T | |
| XM_011524750.1:c.2873A>T | XP_011523052.1:p.His958Leu | |
| NM_000419.4:c.2873A>T | NP_000410.2:p.His958Leu | |
| NM_000419.5:c.2873A>T MANE Select | NP_000410.2:p.His958Leu |