Linked Data
dbSNP Id:
rs757506178
ExAC:
14:50088608 T / C
gnomAD v2:
14-50088608-T-C
gnomAD v4:
14-49621890-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621890T>C , CM000676.2:g.49621890T>C | GRCh38 |
| NC_000014.8:g.50088608T>C , CM000676.1:g.50088608T>C | GRCh37 |
| NC_000014.7:g.49158358T>C | NCBI36 |
| NG_008920.1:g.6120T>C | |
| NG_033054.1:g.3742A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305386.4:c.622T>C MANE Select | ENSP00000307423.2:p.Leu208= | |
| ENST00000305386.3:c.622T>C | ENSP00000307423.2:p.Leu208= | |
| NM_002408.3:c.622T>C | NP_002399.1:p.Leu208= | |
| NM_002408.4:c.622T>C MANE Select | NP_002399.1:p.Leu208= |