Linked Data
gnomAD v4:
12-65170184-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170184G>C , CM000674.2:g.65170184G>C | GRCh38 |
| NC_000012.11:g.65563964G>C , CM000674.1:g.65563964G>C | GRCh37 |
| NC_000012.10:g.63850231G>C | NCBI36 |
| NG_016210.1:g.5614G>C | |
| NG_016210.2:g.5614G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.588G>C MANE Select | ENSP00000308369.2:p.Trp196Cys | |
| ENST00000308330.2:c.588G>C | ENSP00000308369.2:p.Trp196Cys | |
| ENST00000541171.1:n.602G>C | ||
| NM_001167614.1:c.588G>C | NP_001161086.1:p.Trp196Cys | |
| NM_014319.4:c.588G>C | NP_055134.2:p.Trp196Cys | |
| NM_014319.5:c.588G>C MANE Select | NP_055134.2:p.Trp196Cys | |
| NM_001167614.2:c.588G>C | NP_001161086.1:p.Trp196Cys |