Linked Data
dbSNP Id:
rs774785427
ExAC:
5:134364461 C / A
gnomAD v2:
5-134364461-C-A
gnomAD v4:
5-135028771-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028771C>A , CM000667.2:g.135028771C>A | GRCh38 |
| NC_000005.9:g.134364461C>A , CM000667.1:g.134364461C>A | GRCh37 |
| NC_000005.8:g.134392360C>A | NCBI36 |
| NG_012114.1:g.10504G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*8G>T MANE Select | ENSP00000265340.6:n.*8G>T | |
| ENST00000265340.11:c.*8G>T | ENSP00000265340.6:n.*8G>T | |
| ENST00000506438.5:c.*8G>T | ENSP00000427542.1:n.*8G>T | |
| NM_002653.4:c.*8G>T | NP_002644.4:n.*8G>T | |
| NM_002653.5:c.*8G>T MANE Select | NP_002644.4:n.*8G>T |