Linked Data
dbSNP Id:
rs770671188
ExAC:
12:65633806 T / C
gnomAD v2:
12-65633806-T-C
gnomAD v4:
12-65240026-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240026T>C , CM000674.2:g.65240026T>C | GRCh38 |
| NC_000012.11:g.65633806T>C , CM000674.1:g.65633806T>C | GRCh37 |
| NC_000012.10:g.63920073T>C | NCBI36 |
| NG_016210.1:g.75456T>C | |
| NG_016210.2:g.75456T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2019T>C MANE Select | ENSP00000308369.2:p.Ile673= | |
| ENST00000308330.2:c.2019T>C | ENSP00000308369.2:p.Ile673= | |
| NM_001167614.1:c.2016T>C | NP_001161086.1:p.Ile672= | |
| NM_014319.4:c.2019T>C | NP_055134.2:p.Ile673= | |
| NM_014319.5:c.2019T>C MANE Select | NP_055134.2:p.Ile673= | |
| NM_001167614.2:c.2016T>C | NP_001161086.1:p.Ile672= |