Linked Data
dbSNP Id:
rs763811486
ExAC:
12:65633866 C / T
gnomAD v2:
12-65633866-C-T
gnomAD v3:
12-65240086-C-T
gnomAD v4:
12-65240086-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240086C>T , CM000674.2:g.65240086C>T | GRCh38 |
| NC_000012.11:g.65633866C>T , CM000674.1:g.65633866C>T | GRCh37 |
| NC_000012.10:g.63920133C>T | NCBI36 |
| NG_016210.1:g.75516C>T | |
| NG_016210.2:g.75516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2024-50C>T MANE Select | ENSP00000308369.2:n.2024-50C>T | |
| ENST00000308330.2:c.2024-50C>T | ENSP00000308369.2:n.2024-50C>T | |
| NM_001167614.1:c.2021-50C>T | NP_001161086.1:n.2021-50C>T | |
| NM_014319.4:c.2024-50C>T | NP_055134.2:n.2024-50C>T | |
| NM_014319.5:c.2024-50C>T MANE Select | NP_055134.2:n.2024-50C>T | |
| NM_001167614.2:c.2021-50C>T | NP_001161086.1:n.2021-50C>T |