Linked Data
dbSNP Id:
rs759537997
ExAC:
17:40723572 G / C
gnomAD v2:
17-40723572-G-C
gnomAD v4:
17-42571554-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571554G>C , CM000679.2:g.42571554G>C | GRCh38 |
| NC_000017.10:g.40723572G>C , CM000679.1:g.40723572G>C | GRCh37 |
| NC_000017.9:g.37977098G>C | NCBI36 |
| NG_029442.1:g.9495G>C | |
| NG_031960.1:g.11278C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435881.7:c.686G>C MANE Select | ENSP00000416627.1:p.Arg229Pro | |
| ENST00000246912.8:c.848G>C | ENSP00000246912.3:p.Arg283Pro | |
| ENST00000346833.8:c.596G>C | ENSP00000320913.3:p.Arg199Pro | |
| ENST00000435881.6:c.686G>C | ENSP00000416627.1:p.Arg229Pro | |
| ENST00000585403.5:n.893G>C | ||
| ENST00000588320.1:n.1162G>C | ||
| ENST00000590050.5:n.852G>C | ||
| NM_170607.2:c.848G>C | NP_733752.1:p.Arg283Pro | |
| NM_198204.1:c.686G>C | NP_937847.1:p.Arg229Pro | |
| NM_198205.1:c.596G>C | NP_937848.1:p.Arg199Pro | |
| NM_198204.2:c.686G>C MANE Select | NP_937847.1:p.Arg229Pro | |
| NM_170607.3:c.848G>C | NP_733752.1:p.Arg283Pro | |
| NM_198205.2:c.596G>C | NP_937848.1:p.Arg199Pro |