Linked Data
dbSNP Id:
rs1331895809
gnomAD v2:
7-74203392-G-T
gnomAD v3:
7-74789048-G-T
gnomAD v4:
7-74789048-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789048G>T , CM000669.2:g.74789048G>T | GRCh38 |
| NC_000007.13:g.74203392G>T , CM000669.1:g.74203392G>T | GRCh37 |
| NC_000007.12:g.73841328G>T | NCBI36 |
| NG_009078.2:g.20085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.1061G>T MANE Select | ENSP00000289473.4:p.Arg354Leu | |
| ENST00000289473.10:c.1061G>T | ENSP00000289473.4:p.Arg354Leu | |
| ENST00000289473.8:c.1061G>T | ENSP00000289473.4:p.Arg354Leu | |
| ENST00000398421.6:n.2088G>T | ||
| ENST00000455062.2:n.1170G>T | ||
| NM_000265.5:c.1061G>T | NP_000256.4:p.Arg354Leu | |
| XM_005250543.3:c.1023G>T | XP_005250600.2:p.Ala341= | |
| XM_011516498.1:c.1060G>T | XP_011514800.1:p.Gly354Cys | |
| XM_011516501.1:c.668G>T | XP_011514803.1:p.Arg223Leu | |
| NM_000265.6:c.1061G>T | NP_000256.4:p.Arg354Leu | |
| NM_000265.7:c.1061G>T MANE Select | NP_000256.4:p.Arg354Leu |