Linked Data
gnomAD v4:
12-107001344-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001344G>C , CM000674.2:g.107001344G>C | GRCh38 |
| NC_000012.11:g.107395122G>C , CM000674.1:g.107395122G>C | GRCh37 |
| NC_000012.10:g.105919252G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.620C>G MANE Select | ENSP00000008527.5:p.Ser207Cys | |
| ENST00000008527.9:c.620C>G | ENSP00000008527.5:p.Ser207Cys | |
| ENST00000546722.1:n.113C>G | ||
| ENST00000552790.5:n.1179C>G | ||
| NM_004075.4:c.620C>G | NP_004066.1:p.Ser207Cys | |
| XM_011537939.1:c.536C>G | XP_011536241.1:p.Ser179Cys | |
| XM_017018832.2:c.536C>G | XP_016874321.1:p.Ser179Cys | |
| XM_024448844.1:c.620C>G | XP_024304612.1:p.Ser207Cys | |
| XM_024448845.1:c.536C>G | XP_024304613.1:p.Ser179Cys | |
| NM_004075.5:c.620C>G MANE Select | NP_004066.1:p.Ser207Cys |