Linked Data
dbSNP Id:
rs578228524
ExAC:
16:30764722 A / C
gnomAD v2:
16-30764722-A-C
gnomAD v3:
16-30753401-A-C
gnomAD v4:
16-30753401-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753401A>C , CM000678.2:g.30753401A>C | GRCh38 |
| NC_000016.9:g.30764722A>C , CM000678.1:g.30764722A>C | GRCh37 |
| NC_000016.8:g.30672223A>C | NCBI36 |
| NG_016616.1:g.10103A>C | |
| NG_016616.2:g.10103A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.400A>C MANE Select | ENSP00000455607.1:p.Met134Leu | |
| ENST00000328273.11:c.400A>C | ENSP00000329968.7:p.Met134Leu | |
| ENST00000424889.7:c.400A>C | ENSP00000388571.3:p.Met134Leu | |
| ENST00000561712.1:c.74A>C | ||
| ENST00000563588.5:c.400A>C | ENSP00000455607.1:p.Met134Leu | |
| ENST00000563607.1:c.*72A>C | ENSP00000454641.1:n.*72A>C | |
| ENST00000563913.5:n.733A>C | ||
| ENST00000564838.5:n.774A>C | ||
| ENST00000565897.5:c.400A>C | ENSP00000457359.1:p.Met134Leu | |
| ENST00000565924.5:c.400A>C | ENSP00000455091.1:p.Met134Leu | |
| ENST00000569684.1:n.812A>C | ||
| NM_000294.2:c.400A>C | NP_000285.1:p.Met134Leu | |
| NM_001172432.1:c.400A>C | NP_001165903.1:p.Met134Leu | |
| NM_000294.3:c.400A>C MANE Select | NP_000285.1:p.Met134Leu | |
| NM_001172432.2:c.400A>C | NP_001165903.1:p.Met134Leu |