Linked Data
dbSNP Id:
rs746813586
ExAC:
5:148206813 A / T
gnomAD v2:
5-148206813-A-T
gnomAD v4:
5-148827250-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827250A>T , CM000667.2:g.148827250A>T | GRCh38 |
| NC_000005.9:g.148206813A>T , CM000667.1:g.148206813A>T | GRCh37 |
| NC_000005.8:g.148187006A>T | NCBI36 |
| NG_016421.1:g.5658A>T | |
| NG_016421.2:g.5658A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.419A>T MANE Select | ENSP00000305372.4:p.Lys140Met | |
| ENST00000305988.5:c.419A>T | ENSP00000305372.4:p.Lys140Met | |
| NM_000024.5:c.419A>T | NP_000015.1:p.Lys140Met | |
| NM_000024.6:c.419A>T MANE Select | NP_000015.2:p.Lys140Met |