Linked Data
dbSNP Id:
rs1445305797
gnomAD v2:
20-56140621-A-T
gnomAD v3:
20-57565565-A-T
gnomAD v4:
20-57565565-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565565A>T , CM000682.2:g.57565565A>T | GRCh38 |
| NC_000020.10:g.56140621A>T , CM000682.1:g.56140621A>T | GRCh37 |
| NC_000020.9:g.55574027A>T | NCBI36 |
| NG_008205.1:g.9485A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1630A>T MANE Select | ENSP00000319814.4:p.Ile544Phe | |
| ENST00000319441.5:c.1630A>T | ENSP00000319814.4:p.Ile544Phe | |
| ENST00000467047.1:n.4272A>T | ||
| NM_002591.3:c.1630A>T | NP_002582.3:p.Ile544Phe | |
| XM_011528839.1:c.1234A>T | XP_011527141.1:p.Ile412Phe | |
| XM_024451888.1:c.1234A>T | XP_024307656.1:p.Ile412Phe | |
| NM_002591.4:c.1630A>T MANE Select | NP_002582.3:p.Ile544Phe |