Linked Data
dbSNP Id:
rs760112650
ExAC:
12:65632507 C / A
gnomAD v2:
12-65632507-C-A
gnomAD v4:
12-65238727-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65238727C>A , CM000674.2:g.65238727C>A | GRCh38 |
| NC_000012.11:g.65632507C>A , CM000674.1:g.65632507C>A | GRCh37 |
| NC_000012.10:g.63918774C>A | NCBI36 |
| NG_016210.1:g.74157C>A | |
| NG_016210.2:g.74157C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1834C>A MANE Select | ENSP00000308369.2:p.Gln612Lys | |
| ENST00000308330.2:c.1834C>A | ENSP00000308369.2:p.Gln612Lys | |
| NM_001167614.1:c.1831C>A | NP_001161086.1:p.Gln611Lys | |
| NM_014319.4:c.1834C>A | NP_055134.2:p.Gln612Lys | |
| NM_014319.5:c.1834C>A MANE Select | NP_055134.2:p.Gln612Lys | |
| NM_001167614.2:c.1831C>A | NP_001161086.1:p.Gln611Lys |