Linked Data
dbSNP Id:
rs13447335
ExAC:
18:58038852 G / C
gnomAD v2:
18-58038852-G-C
gnomAD v3:
18-60371619-G-C
gnomAD v4:
18-60371619-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371619G>C , CM000680.2:g.60371619G>C | GRCh38 |
| NC_000018.9:g.58038852G>C , CM000680.1:g.58038852G>C | GRCh37 |
| NC_000018.8:g.56189832G>C | NCBI36 |
| NG_016441.1:g.6150C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.731C>G MANE Select | ENSP00000299766.3:p.Ala244Gly | |
| ENST00000299766.4:c.731C>G | ENSP00000299766.3:p.Ala244Gly | |
| NM_005912.2:c.731C>G | NP_005903.2:p.Ala244Gly | |
| NM_005912.3:c.731C>G MANE Select | NP_005903.2:p.Ala244Gly |