Linked Data
ClinVar Variation Id:
357263
ClinVar RCV Id:
RCV000670305
dbSNP Id:
rs886061561
gnomAD v2:
6-49427139-T-A
gnomAD v4:
6-49459426-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459426T>A , CM000668.2:g.49459426T>A | GRCh38 |
| NC_000006.11:g.49427139T>A , CM000668.1:g.49427139T>A | GRCh37 |
| NC_000006.10:g.49535098T>A | NCBI36 |
| NG_007100.1:g.8714A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.41A>T MANE Select | ENSP00000274813.3:p.His14Leu | |
| ENST00000274813.3:c.41A>T | ENSP00000274813.3:p.His14Leu | |
| NM_000255.3:c.41A>T | NP_000246.2:p.His14Leu | |
| XM_005249143.2:c.41A>T | XP_005249200.1:p.His14Leu | |
| XM_005249143.3:c.41A>T | XP_005249200.1:p.His14Leu | |
| NM_000255.4:c.41A>T MANE Select | NP_000246.2:p.His14Leu |