Linked Data
dbSNP Id:
rs368271334
ExAC:
17:59668143 C / G
gnomAD v2:
17-59668143-C-G
gnomAD v3:
17-61590782-C-G
gnomAD v4:
17-61590782-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590782C>G , CM000679.2:g.61590782C>G | GRCh38 |
| NC_000017.10:g.59668143C>G , CM000679.1:g.59668143C>G | GRCh37 |
| NC_000017.9:g.57022925C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.399G>C MANE Select | ENSP00000427802.1:p.Gln133His | |
| ENST00000521764.2:c.399G>C | ENSP00000427802.1:p.Gln133His | |
| NM_199290.3:c.399G>C | NP_954984.1:p.Gln133His | |
| NM_199290.4:c.399G>C MANE Select | NP_954984.1:p.Gln133His |