Linked Data
dbSNP Id:
rs768442916
ExAC:
11:67353587 G / T
gnomAD v2:
11-67353587-G-T
gnomAD v4:
11-67586116-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586116G>T , CM000673.2:g.67586116G>T | GRCh38 |
| NC_000011.9:g.67353587G>T , CM000673.1:g.67353587G>T | GRCh37 |
| NC_000011.8:g.67110163G>T | NCBI36 |
| NG_012075.1:g.7522G>T , LRG_723:g.7522G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.337-273G>T | ENSP00000381604.1:n.337-273G>T | |
| ENST00000398606.10:c.349G>T MANE Select | ENSP00000381607.3:p.Asp117Tyr | |
| ENST00000646888.1:c.*65G>T | ENSP00000494477.1:n.*65G>T | |
| ENST00000398603.5:c.337-273G>T | ENSP00000381604.1:n.337-273G>T | |
| ENST00000398606.7:c.349G>T | ENSP00000381607.3:p.Asp117Tyr | |
| ENST00000467591.1:n.460G>T | ||
| ENST00000494593.1:n.1144G>T | ||
| ENST00000495996.1:c.13G>T | ENSP00000484686.1:p.Asp5Tyr | |
| ENST00000498765.5:c.412G>T | ||
| NM_000852.3:c.349G>T , LRG_723t1:c.349G>T | NP_000843.1:p.Asp117Tyr | |
| NM_000852.4:c.349G>T MANE Select | NP_000843.1:p.Asp117Tyr |