Linked Data
dbSNP Id:
rs2050728409
gnomAD v4:
14-50944182-G-A
MyVariant Identifiers:
chr14:g.51410900G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944182G>A , CM000676.2:g.50944182G>A | GRCh38 |
| NC_000014.8:g.51410900G>A , CM000676.1:g.51410900G>A | GRCh37 |
| NC_000014.7:g.50480650G>A | NCBI36 |
| NG_012796.1:g.5349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.222C>T MANE Select | ENSP00000216392.7:p.His74= | |
| ENST00000216392.7:c.222C>T | ENSP00000216392.7:p.His74= | |
| ENST00000530336.2:n.289C>T | ||
| ENST00000532462.5:c.222C>T | ENSP00000431657.1:p.His74= | |
| ENST00000544180.6:c.222C>T | ENSP00000443787.1:p.His74= | |
| NM_001163940.1:c.222C>T | NP_001157412.1:p.His74= | |
| NM_002863.4:c.222C>T | NP_002854.3:p.His74= | |
| NM_002863.5:c.222C>T MANE Select | NP_002854.3:p.His74= | |
| NM_001163940.2:c.222C>T | NP_001157412.1:p.His74= |