Linked Data
dbSNP Id:
rs746818008
ExAC:
6:24302014 G / C
gnomAD v2:
6-24302014-G-C
gnomAD v3:
6-24301786-G-C
gnomAD v4:
6-24301786-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301786G>C , CM000668.2:g.24301786G>C | GRCh38 |
| NC_000006.11:g.24302014G>C , CM000668.1:g.24302014G>C | GRCh37 |
| NC_000006.10:g.24409993G>C | NCBI36 |
| NG_012829.1:g.61267C>G | |
| NG_012829.2:g.86507C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.486C>G MANE Select | ENSP00000367715.3:p.Thr162= | |
| ENST00000378454.7:c.486C>G | ENSP00000367715.3:p.Thr162= | |
| NM_001195610.1:c.486C>G | NP_001182539.1:p.Thr162= | |
| NM_016356.4:c.486C>G | NP_057440.2:p.Thr162= | |
| NM_016356.5:c.486C>G MANE Select | NP_057440.2:p.Thr162= | |
| NM_001195610.2:c.486C>G | NP_001182539.1:p.Thr162= |