Linked Data
dbSNP Id:
rs376074280
ExAC:
11:67354017 A / C
gnomAD v2:
11-67354017-A-C
gnomAD v3:
11-67586546-A-C
gnomAD v4:
11-67586546-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586546A>C , CM000673.2:g.67586546A>C | GRCh38 |
| NC_000011.9:g.67354017A>C , CM000673.1:g.67354017A>C | GRCh37 |
| NC_000011.8:g.67110593A>C | NCBI36 |
| NG_012075.1:g.7952A>C , LRG_723:g.7952A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.494A>C | ENSP00000381604.1:p.Asn165Thr | |
| ENST00000398606.10:c.602A>C MANE Select | ENSP00000381607.3:p.Asn201Thr | |
| ENST00000398603.5:c.494A>C | ENSP00000381604.1:p.Asn165Thr | |
| ENST00000398606.7:c.602A>C | ENSP00000381607.3:p.Asn201Thr | |
| ENST00000467591.1:n.713A>C | ||
| ENST00000494593.1:n.1574A>C | ||
| ENST00000498765.5:c.665A>C | ||
| NM_000852.3:c.602A>C , LRG_723t1:c.602A>C | NP_000843.1:p.Asn201Thr | |
| NM_000852.4:c.602A>C MANE Select | NP_000843.1:p.Asn201Thr |