Linked Data
dbSNP Id:
rs778719659
ExAC:
13:113803761 T / C
gnomAD v2:
13-113803761-T-C
gnomAD v4:
13-113149447-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149447T>C , CM000675.2:g.113149447T>C | GRCh38 |
| NC_000013.10:g.113803761T>C , CM000675.1:g.113803761T>C | GRCh37 |
| NC_000013.9:g.112851762T>C | NCBI36 |
| NG_009258.1:g.31649T>C , LRG_548:g.31649T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1397T>C MANE Select | ENSP00000364709.3:p.Met466Thr | |
| ENST00000375551.7:c.*388T>C | ENSP00000364701.3:n.*388T>C | |
| ENST00000375559.7:c.1397T>C | ENSP00000364709.3:p.Met466Thr | |
| ENST00000409306.5:c.*388T>C | ENSP00000387092.1:n.*388T>C | |
| NM_000504.3:c.1397T>C , LRG_548t1:c.1397T>C | NP_000495.1:p.Met466Thr | |
| NM_001312674.1:c.1265T>C | NP_001299603.1:p.Met422Thr | |
| NM_001312675.1:c.*388T>C | NP_001299604.1:n.*388T>C | |
| NM_000504.4:c.1397T>C MANE Select | NP_000495.1:p.Met466Thr | |
| NM_001312674.2:c.1265T>C | NP_001299603.1:p.Met422Thr | |
| NM_001312675.2:c.*388T>C | NP_001299604.1:n.*388T>C |