Linked Data
dbSNP Id:
rs1363046520
gnomAD v2:
6-32188559-G-A
gnomAD v3:
6-32220782-G-A
gnomAD v4:
6-32220782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220782G>A , CM000668.2:g.32220782G>A | GRCh38 |
| NC_000006.11:g.32188559G>A , CM000668.1:g.32188559G>A | GRCh37 |
| NC_000006.10:g.32296537G>A | NCBI36 |
| NG_028190.1:g.8286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.896C>T MANE Select | ENSP00000364163.3:p.Thr299Ile | |
| ENST00000473562.1:n.1025C>T | ||
| NM_004557.3:c.896C>T | NP_004548.3:p.Thr299Ile | |
| NR_134949.1:n.1035C>T | ||
| NR_134950.1:n.1035C>T | ||
| NM_004557.4:c.896C>T MANE Select | NP_004548.3:p.Thr299Ile | |
| NR_134949.2:n.1035C>T | ||
| NR_134950.2:n.1035C>T |