Linked Data
dbSNP Id:
rs780269230
ExAC:
6:24145927 T / C
gnomAD v2:
6-24145927-T-C
gnomAD v4:
6-24145699-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145699T>C , CM000668.2:g.24145699T>C | GRCh38 |
| NC_000006.11:g.24145927T>C , CM000668.1:g.24145927T>C | GRCh37 |
| NC_000006.10:g.24253906T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.341T>C MANE Select | ENSP00000367752.4:p.Met114Thr | |
| ENST00000378477.2:c.341T>C | ENSP00000367738.2:p.Met114Thr | |
| ENST00000378478.5:c.341T>C | ENSP00000367739.2:p.Met114Thr | |
| ENST00000378491.8:c.341T>C | ENSP00000367752.4:p.Met114Thr | |
| ENST00000468195.2:n.257-9072T>C | ||
| NM_080723.4:c.341T>C | NP_542454.3:p.Met114Thr | |
| NM_080723.5:c.341T>C MANE Select | NP_542454.3:p.Met114Thr |