Linked Data
dbSNP Id:
rs4986949
ExAC:
11:67353677 G / T
gnomAD v2:
11-67353677-G-T
gnomAD v3:
11-67586206-G-T
gnomAD v4:
11-67586206-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586206G>T , CM000673.2:g.67586206G>T | GRCh38 |
| NC_000011.9:g.67353677G>T , CM000673.1:g.67353677G>T | GRCh37 |
| NC_000011.8:g.67110253G>T | NCBI36 |
| NG_012075.1:g.7612G>T , LRG_723:g.7612G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-183G>T | ENSP00000381604.1:n.337-183G>T | |
| ENST00000398606.10:c.439G>T MANE Select | ENSP00000381607.3:p.Asp147Tyr | |
| ENST00000646888.1:c.*155G>T | ENSP00000494477.1:n.*155G>T | |
| ENST00000398603.5:c.337-183G>T | ENSP00000381604.1:n.337-183G>T | |
| ENST00000398606.7:c.439G>T | ENSP00000381607.3:p.Asp147Tyr | |
| ENST00000467591.1:n.550G>T | ||
| ENST00000494593.1:n.1234G>T | ||
| ENST00000495996.1:c.103G>T | ENSP00000484686.1:p.Asp35Tyr | |
| ENST00000498765.5:c.502G>T | ||
| NM_000852.3:c.439G>T , LRG_723t1:c.439G>T | NP_000843.1:p.Asp147Tyr | |
| NM_000852.4:c.439G>T MANE Select | NP_000843.1:p.Asp147Tyr |