Linked Data
dbSNP Id:
rs759071552
ExAC:
1:215848829 G / A
gnomAD v2:
1-215848829-G-A
gnomAD v4:
1-215675487-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675487G>A , CM000663.2:g.215675487G>A | GRCh38 |
| NC_000001.10:g.215848829G>A , CM000663.1:g.215848829G>A | GRCh37 |
| NC_000001.9:g.213915452G>A | NCBI36 |
| NG_009497.1:g.752910C>T | |
| NG_009497.2:g.752962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12424C>T MANE Select | ENSP00000305941.3:p.His4142Tyr | |
| ENST00000674083.1:c.12424C>T | ENSP00000501296.1:p.His4142Tyr | |
| ENST00000307340.7:c.12424C>T | ENSP00000305941.3:p.His4142Tyr | |
| NM_206933.2:c.12424C>T | NP_996816.2:p.His4142Tyr | |
| NM_206933.3:c.12424C>T | NP_996816.2:p.His4142Tyr | |
| NM_206933.4:c.12424C>T MANE Select | NP_996816.3:p.His4142Tyr |