Linked Data
ClinVar Variation Id:
1684
ClinVar RCV Id:
RCV000001752
dbSNP Id:
rs387906261
gnomAD v4:
19-12665750-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665750T>A , CM000681.2:g.12665750T>A | GRCh38 |
| NC_000019.9:g.12776564T>A , CM000681.1:g.12776564T>A | GRCh37 |
| NC_000019.8:g.12637564T>A | NCBI36 |
| NG_008318.1:g.6028A>T | |
| NG_015814.1:g.3947T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.215A>T MANE Select | ENSP00000395473.2:p.His72Leu | |
| ENST00000221363.8:c.215A>T | ENSP00000221363.4:p.His72Leu | |
| ENST00000456935.6:c.215A>T | ENSP00000395473.2:p.His72Leu | |
| ENST00000466794.5:n.197A>T | ||
| ENST00000486847.2:c.160-225A>T | ENSP00000470174.1:n.160-225A>T | |
| ENST00000596512.5:n.201-225A>T | ||
| ENST00000597961.1:c.206A>T | ENSP00000472710.1:p.His69Leu | |
| ENST00000598876.1:c.242A>T | ENSP00000470533.1:p.His81Leu | |
| ENST00000600281.1:n.256A>T | ||
| NM_000528.3:c.215A>T | NP_000519.2:p.His72Leu | |
| NM_001173498.1:c.215A>T | NP_001166969.1:p.His72Leu | |
| XM_005259913.1:c.215A>T | XP_005259970.1:p.His72Leu | |
| XM_005259913.2:c.215A>T | XP_005259970.1:p.His72Leu | |
| XM_024451518.1:c.-804A>T | XP_024307286.1:n.-804A>T | |
| NM_000528.4:c.215A>T MANE Select | NP_000519.2:p.His72Leu | |
| NM_001173498.2:c.215A>T | NP_001166969.1:p.His72Leu |