Linked Data
dbSNP Id:
rs755822514
ExAC:
6:32810752 C / G
gnomAD v2:
6-32810752-C-G
gnomAD v4:
6-32842975-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842975C>G , CM000668.2:g.32842975C>G | GRCh38 |
| NC_000006.11:g.32810752C>G , CM000668.1:g.32810752C>G | GRCh37 |
| NC_000006.10:g.32918730C>G | NCBI36 |
| NG_009793.3:g.796G>C | |
| NG_028165.1:g.6961G>C | |
| NG_009793.4:g.796G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.283G>C | ||
| ENST00000697612.1:n.961G>C | ||
| ENST00000374881.3:c.250G>C | ENSP00000364015.2:p.Val84Leu | |
| ENST00000374882.8:c.262G>C MANE Select | ENSP00000364016.4:p.Val88Leu | |
| ENST00000650411.1:n.1583G>C | ||
| ENST00000650793.1:n.283G>C | ||
| ENST00000374881.2:c.250G>C | ENSP00000364015.2:p.Val84Leu | |
| ENST00000374882.7:c.262G>C | ENSP00000364016.3:p.Val88Leu | |
| ENST00000395339.7:c.262G>C | ENSP00000378748.3:p.Val88Leu | |
| ENST00000484003.1:n.488G>C | ||
| NM_004159.4:c.250G>C | NP_004150.1:p.Val84Leu | |
| NM_148919.3:c.262G>C | NP_683720.2:p.Val88Leu | |
| NM_148919.4:c.262G>C MANE Select | NP_683720.2:p.Val88Leu | |
| NM_004159.5:c.250G>C | NP_004150.1:p.Val84Leu |