Linked Data
dbSNP Id:
rs369078225
gnomAD v2:
2-71351479-G-A
gnomAD v3:
2-71124349-G-A
gnomAD v4:
2-71124349-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124349G>A , CM000664.2:g.71124349G>A | GRCh38 |
| NC_000002.11:g.71351479G>A , CM000664.1:g.71351479G>A | GRCh37 |
| NC_000002.10:g.71204987G>A | NCBI36 |
| NG_008977.1:g.10916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.235C>T MANE Select | ENSP00000244217.5:p.Leu79Phe | |
| ENST00000244217.5:c.235C>T | ENSP00000244217.5:p.Leu79Phe | |
| ENST00000413592.5:c.84+19C>T | ENSP00000391140.1:n.84+19C>T | |
| ENST00000486135.1:c.-51C>T | ENSP00000441569.1:n.-51C>T | |
| ENST00000494660.6:c.-51C>T | ENSP00000437361.1:n.-51C>T | |
| NM_032601.3:c.235C>T | NP_115990.3:p.Leu79Phe | |
| XM_005264613.2:c.216+19C>T | XP_005264670.1:n.216+19C>T | |
| XR_939729.1:n.304C>T | ||
| XR_939729.2:n.304C>T | ||
| NM_032601.4:c.235C>T MANE Select | NP_115990.3:p.Leu79Phe |