Linked Data
dbSNP Id:
rs762790223
ExAC:
12:65639920 T / C
gnomAD v2:
12-65639920-T-C
gnomAD v4:
12-65246140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246140T>C , CM000674.2:g.65246140T>C | GRCh38 |
| NC_000012.11:g.65639920T>C , CM000674.1:g.65639920T>C | GRCh37 |
| NC_000012.10:g.63926187T>C | NCBI36 |
| NG_016210.1:g.81570T>C | |
| NG_016210.2:g.81570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2573-22T>C MANE Select | ENSP00000308369.2:n.2573-22T>C | |
| ENST00000308330.2:c.2573-22T>C | ENSP00000308369.2:n.2573-22T>C | |
| ENST00000539442.1:n.555-22T>C | ||
| ENST00000544506.1:n.293-22T>C | ||
| ENST00000545026.1:n.391-22T>C | ||
| NM_001167614.1:c.2570-22T>C | NP_001161086.1:n.2570-22T>C | |
| NM_014319.4:c.2573-22T>C | NP_055134.2:n.2573-22T>C | |
| NM_014319.5:c.2573-22T>C MANE Select | NP_055134.2:n.2573-22T>C | |
| NM_001167614.2:c.2570-22T>C | NP_001161086.1:n.2570-22T>C |