Linked Data
dbSNP Id:
rs775987512
ExAC:
17:6683931 C / T
gnomAD v2:
17-6683931-C-T
gnomAD v4:
17-6780612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780612C>T , CM000679.2:g.6780612C>T | GRCh38 |
| NC_000017.10:g.6683931C>T , CM000679.1:g.6683931C>T | GRCh37 |
| NC_000017.9:g.6624655C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.744C>T MANE Select | ENSP00000321386.4:p.Ala248= | |
| ENST00000321535.4:c.744C>T | ENSP00000321386.4:p.Ala248= | |
| NM_153230.2:c.744C>T | NP_694962.1:p.Ala248= | |
| XM_011523697.1:c.744C>T | XP_011521999.1:p.Ala248= | |
| XR_243544.3:n.922C>T | ||
| NM_153230.3:c.744C>T MANE Select | NP_694962.1:p.Ala248= |