Linked Data
dbSNP Id:
rs767588014
ExAC:
17:40723586 G / C
gnomAD v2:
17-40723586-G-C
gnomAD v3:
17-42571568-G-C
gnomAD v4:
17-42571568-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571568G>C , CM000679.2:g.42571568G>C | GRCh38 |
| NC_000017.10:g.40723586G>C , CM000679.1:g.40723586G>C | GRCh37 |
| NC_000017.9:g.37977112G>C | NCBI36 |
| NG_029442.1:g.9509G>C | |
| NG_031960.1:g.11264C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435881.7:c.700G>C MANE Select | ENSP00000416627.1:p.Gly234Arg | |
| ENST00000246912.8:c.862G>C | ENSP00000246912.3:p.Gly288Arg | |
| ENST00000346833.8:c.610G>C | ENSP00000320913.3:p.Gly204Arg | |
| ENST00000435881.6:c.700G>C | ENSP00000416627.1:p.Gly234Arg | |
| ENST00000585403.5:n.907G>C | ||
| ENST00000588320.1:n.1176G>C | ||
| ENST00000590050.5:n.866G>C | ||
| NM_170607.2:c.862G>C | NP_733752.1:p.Gly288Arg | |
| NM_198204.1:c.700G>C | NP_937847.1:p.Gly234Arg | |
| NM_198205.1:c.610G>C | NP_937848.1:p.Gly204Arg | |
| NM_198204.2:c.700G>C MANE Select | NP_937847.1:p.Gly234Arg | |
| NM_170607.3:c.862G>C | NP_733752.1:p.Gly288Arg | |
| NM_198205.2:c.610G>C | NP_937848.1:p.Gly204Arg |