Linked Data
dbSNP Id:
rs774823451
ExAC:
2:233404485 C / T
gnomAD v2:
2-233404485-C-T
gnomAD v4:
2-232539775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539775C>T , CM000664.2:g.232539775C>T | GRCh38 |
| NC_000002.11:g.233404485C>T , CM000664.1:g.233404485C>T | GRCh37 |
| NC_000002.10:g.233112729C>T | NCBI36 |
| NG_012954.1:g.5049C>T | |
| NG_012954.2:g.5084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.28C>T MANE Select | ENSP00000498757.1:p.Leu10Phe | |
| ENST00000389492.3:c.28C>T | ENSP00000374143.3:p.Leu10Phe | |
| ENST00000389494.7:c.28C>T | ENSP00000374145.3:p.Leu10Phe | |
| ENST00000485094.1:n.49C>T | ||
| NM_005199.4:c.28C>T | NP_005190.4:p.Leu10Phe | |
| NM_005199.5:c.28C>T MANE Select | NP_005190.4:p.Leu10Phe |