Linked Data
dbSNP Id:
rs749924021
ExAC:
10:73767595 A / T
gnomAD v2:
10-73767595-A-T
gnomAD v3:
10-72007837-A-T
gnomAD v4:
10-72007837-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007837A>T , CM000672.2:g.72007837A>T | GRCh38 |
| NC_000010.10:g.73767595A>T , CM000672.1:g.73767595A>T | GRCh37 |
| NC_000010.9:g.73437601A>T | NCBI36 |
| NG_012635.1:g.48476A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.806A>T MANE Select | ENSP00000362207.4:p.His269Leu | |
| ENST00000373115.4:c.806A>T | ENSP00000362207.4:p.His269Leu | |
| NM_004273.4:c.806A>T | NP_004264.2:p.His269Leu | |
| XM_006718075.2:c.806A>T | XP_006718138.1:p.His269Leu | |
| XM_011540369.1:c.806A>T | XP_011538671.1:p.His269Leu | |
| XM_006718075.4:c.806A>T | XP_006718138.1:p.His269Leu | |
| XM_011540369.2:c.806A>T | XP_011538671.1:p.His269Leu | |
| NM_004273.5:c.806A>T MANE Select | NP_004264.2:p.His269Leu |