Linked Data
dbSNP Id:
rs907601736
gnomAD v2:
20-56140670-A-T
gnomAD v3:
20-57565614-A-T
gnomAD v4:
20-57565614-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565614A>T , CM000682.2:g.57565614A>T | GRCh38 |
| NC_000020.10:g.56140670A>T , CM000682.1:g.56140670A>T | GRCh37 |
| NC_000020.9:g.55574076A>T | NCBI36 |
| NG_008205.1:g.9534A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1679A>T MANE Select | ENSP00000319814.4:p.Lys560Met | |
| ENST00000319441.5:c.1679A>T | ENSP00000319814.4:p.Lys560Met | |
| ENST00000467047.1:n.4321A>T | ||
| NM_002591.3:c.1679A>T | NP_002582.3:p.Lys560Met | |
| XM_011528839.1:c.1283A>T | XP_011527141.1:p.Lys428Met | |
| XM_024451888.1:c.1283A>T | XP_024307656.1:p.Lys428Met | |
| NM_002591.4:c.1679A>T MANE Select | NP_002582.3:p.Lys560Met |