Linked Data
dbSNP Id:
rs200058448
ExAC:
17:6683801 G / C
gnomAD v2:
17-6683801-G-C
gnomAD v3:
17-6780482-G-C
gnomAD v4:
17-6780482-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780482G>C , CM000679.2:g.6780482G>C | GRCh38 |
| NC_000017.10:g.6683801G>C , CM000679.1:g.6683801G>C | GRCh37 |
| NC_000017.9:g.6624525G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.614G>C MANE Select | ENSP00000321386.4:p.Ser205Thr | |
| ENST00000321535.4:c.614G>C | ENSP00000321386.4:p.Ser205Thr | |
| NM_153230.2:c.614G>C | NP_694962.1:p.Ser205Thr | |
| XM_011523697.1:c.614G>C | XP_011521999.1:p.Ser205Thr | |
| XR_243544.3:n.792G>C | ||
| NM_153230.3:c.614G>C MANE Select | NP_694962.1:p.Ser205Thr |