Linked Data
dbSNP Id:
rs150681833
ExAC:
17:64224207 G / C
gnomAD v2:
17-64224207-G-C
gnomAD v3:
17-66228089-G-C
gnomAD v4:
17-66228089-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228089G>C , CM000679.2:g.66228089G>C | GRCh38 |
| NC_000017.10:g.64224207G>C , CM000679.1:g.64224207G>C | GRCh37 |
| NC_000017.9:g.61654669G>C | NCBI36 |
| NG_012045.1:g.6350C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.172C>G MANE Select | ENSP00000205948.6:p.Arg58Gly | |
| ENST00000205948.10:c.172C>G | ENSP00000205948.6:p.Arg58Gly | |
| ENST00000577982.1:c.172C>G | ENSP00000464301.1:p.Arg58Gly | |
| ENST00000581797.5:c.-9C>G | ENSP00000463553.1:n.-9C>G | |
| NM_000042.2:c.172C>G | NP_000033.2:p.Arg58Gly | |
| NM_000042.3:c.172C>G MANE Select | NP_000033.2:p.Arg58Gly |