Linked Data
dbSNP Id:
rs778961519
ExAC:
7:87145951 C / T
gnomAD v2:
7-87145951-C-T
gnomAD v4:
7-87516635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87516635C>T , CM000669.2:g.87516635C>T | GRCh38 |
| NC_000007.13:g.87145951C>T , CM000669.1:g.87145951C>T | GRCh37 |
| NC_000007.12:g.86983887C>T | NCBI36 |
| NG_011513.1:g.201614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2958G>A | ENSP00000265724.3:p.Met986Ile | |
| ENST00000622132.5:c.2958G>A MANE Select | ENSP00000478255.1:p.Met986Ile | |
| ENST00000265724.7:c.2958G>A | ENSP00000265724.3:p.Met986Ile | |
| ENST00000475929.5:n.114G>A | ||
| ENST00000483831.1:n.516G>A | ||
| ENST00000488737.6:n.600G>A | ||
| ENST00000496821.5:n.586G>A | ||
| ENST00000543898.5:c.2766G>A | ENSP00000444095.1:p.Met922Ile | |
| ENST00000622132.4:c.2958G>A | ENSP00000478255.1:p.Met986Ile | |
| NM_000927.4:c.2958G>A | NP_000918.2:p.Met986Ile | |
| NM_001348944.1:c.2958G>A | NP_001335873.1:p.Met986Ile | |
| NM_001348945.1:c.3168G>A | NP_001335874.1:p.Met1056Ile | |
| NM_001348946.1:c.2958G>A | NP_001335875.1:p.Met986Ile | |
| NM_001348946.2:c.2958G>A MANE Select | NP_001335875.1:p.Met986Ile | |
| NM_000927.5:c.2958G>A | NP_000918.2:p.Met986Ile | |
| NM_001348944.2:c.2958G>A | NP_001335873.1:p.Met986Ile | |
| NM_001348945.2:c.3168G>A | NP_001335874.1:p.Met1056Ile |