Linked Data
dbSNP Id:
rs1562836372
gnomAD v2:
7-107336444-C-T
gnomAD v3:
7-107695999-C-T
gnomAD v4:
7-107695999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695999C>T , CM000669.2:g.107695999C>T | GRCh38 |
| NC_000007.13:g.107336444C>T , CM000669.1:g.107336444C>T | GRCh37 |
| NC_000007.12:g.107123680C>T | NCBI36 |
| NG_008489.1:g.40365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1504C>T MANE Select | ENSP00000494017.1:p.Leu502Phe | |
| ENST00000644846.1:c.215C>T | ||
| ENST00000265715.7:c.1504C>T | ENSP00000265715.3:p.Leu502Phe | |
| ENST00000477350.5:n.351C>T | ||
| ENST00000480841.5:n.353C>T | ||
| ENST00000497446.5:n.519C>T | ||
| NM_000441.1:c.1504C>T | NP_000432.1:p.Leu502Phe | |
| XM_005250425.1:c.1504C>T | XP_005250482.1:p.Leu502Phe | |
| XM_005250425.2:c.1504C>T | XP_005250482.1:p.Leu502Phe | |
| XM_017012318.1:c.1426C>T | XP_016867807.1:p.Leu476Phe | |
| NM_000441.2:c.1504C>T MANE Select | NP_000432.1:p.Leu502Phe |