Linked Data
dbSNP Id:
rs775933190
ExAC:
6:38650625 G / A
gnomAD v2:
6-38650625-G-A
gnomAD v3:
6-38682849-G-A
gnomAD v4:
6-38682849-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682849G>A , CM000668.2:g.38682849G>A | GRCh38 |
| NC_000006.11:g.38650625G>A , CM000668.1:g.38650625G>A | GRCh37 |
| NC_000006.10:g.38758603G>A | NCBI36 |
| NG_012074.1:g.25328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.335C>T MANE Select | ENSP00000362463.3:p.Thr112Ile | |
| ENST00000373365.4:c.335C>T | ENSP00000362463.3:p.Thr112Ile | |
| ENST00000470973.1:n.367C>T | ||
| NM_006708.2:c.335C>T | NP_006699.2:p.Thr112Ile | |
| NM_006708.3:c.335C>T MANE Select | NP_006699.2:p.Thr112Ile |