Linked Data
dbSNP Id:
rs202151630
ExAC:
15:40764459 G / C
gnomAD v2:
15-40764459-G-C
gnomAD v3:
15-40472260-G-C
gnomAD v4:
15-40472260-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472260G>C , CM000677.2:g.40472260G>C | GRCh38 |
| NC_000015.9:g.40764459G>C , CM000677.1:g.40764459G>C | GRCh37 |
| NC_000015.8:g.38551751G>C | NCBI36 |
| NG_017074.1:g.6300G>C , LRG_600:g.6300G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.1047G>C MANE Select | ENSP00000307297.6:p.Gln349His | |
| ENST00000306243.6:c.1047G>C | ENSP00000307297.5:p.Gln349His | |
| ENST00000559991.1:c.972G>C | ENSP00000453882.1:p.Gln324His | |
| NM_130468.3:c.1047G>C , LRG_600t1:c.1047G>C | NP_569735.1:p.Gln349His | |
| NM_130468.4:c.1047G>C MANE Select | NP_569735.1:p.Gln349His |