Linked Data
dbSNP Id:
rs199949339
ExAC:
11:67353669 T / C
gnomAD v2:
11-67353669-T-C
gnomAD v3:
11-67586198-T-C
gnomAD v4:
11-67586198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586198T>C , CM000673.2:g.67586198T>C | GRCh38 |
| NC_000011.9:g.67353669T>C , CM000673.1:g.67353669T>C | GRCh37 |
| NC_000011.8:g.67110245T>C | NCBI36 |
| NG_012075.1:g.7604T>C , LRG_723:g.7604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-191T>C | ENSP00000381604.1:n.337-191T>C | |
| ENST00000398606.10:c.431T>C MANE Select | ENSP00000381607.3:p.Ile144Thr | |
| ENST00000646888.1:c.*147T>C | ENSP00000494477.1:n.*147T>C | |
| ENST00000398603.5:c.337-191T>C | ENSP00000381604.1:n.337-191T>C | |
| ENST00000398606.7:c.431T>C | ENSP00000381607.3:p.Ile144Thr | |
| ENST00000467591.1:n.542T>C | ||
| ENST00000494593.1:n.1226T>C | ||
| ENST00000495996.1:c.95T>C | ENSP00000484686.1:p.Ile32Thr | |
| ENST00000498765.5:c.494T>C | ||
| NM_000852.3:c.431T>C , LRG_723t1:c.431T>C | NP_000843.1:p.Ile144Thr | |
| NM_000852.4:c.431T>C MANE Select | NP_000843.1:p.Ile144Thr |