Linked Data
dbSNP Id:
rs571940665
ExAC:
5:134367016 T / C
gnomAD v2:
5-134367016-T-C
gnomAD v3:
5-135031326-T-C
gnomAD v4:
5-135031326-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031326T>C , CM000667.2:g.135031326T>C | GRCh38 |
| NC_000005.9:g.134367016T>C , CM000667.1:g.134367016T>C | GRCh37 |
| NC_000005.8:g.134394915T>C | NCBI36 |
| NG_012114.1:g.7949A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.352A>G MANE Select | ENSP00000265340.6:p.Met118Val | |
| ENST00000265340.11:c.352A>G | ENSP00000265340.6:p.Met118Val | |
| ENST00000503586.1:c.474A>G | ||
| ENST00000504936.1:n.685A>G | ||
| ENST00000506438.5:c.352A>G | ENSP00000427542.1:p.Met118Val | |
| ENST00000507253.5:c.352A>G | ENSP00000422908.1:p.Met118Val | |
| NM_002653.4:c.352A>G | NP_002644.4:p.Met118Val | |
| NM_002653.5:c.352A>G MANE Select | NP_002644.4:p.Met118Val |