Linked Data
dbSNP Id:
rs1272484534
gnomAD v2:
5-177031485-T-G
gnomAD v3:
5-177604484-T-G
gnomAD v4:
5-177604484-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604484T>G , CM000667.2:g.177604484T>G | GRCh38 |
| NC_000005.9:g.177031485T>G , CM000667.1:g.177031485T>G | GRCh37 |
| NC_000005.8:g.176964091T>G | NCBI36 |
| NG_015977.1:g.9367T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.356T>G MANE Select | ENSP00000029410.5:p.Leu119Arg | |
| ENST00000029410.9:c.356T>G | ENSP00000029410.5:p.Leu119Arg | |
| ENST00000502420.1:n.335T>G | ||
| ENST00000505433.5:c.356T>G | ENSP00000425591.1:p.Leu119Arg | |
| ENST00000505468.1:c.14T>G | ENSP00000420886.1:p.Leu5Arg | |
| ENST00000507061.1:c.173T>G | ENSP00000423868.1:p.Leu58Arg | |
| ENST00000510761.1:c.14T>G | ENSP00000423438.1:p.Leu5Arg | |
| NM_007255.2:c.356T>G | NP_009186.1:p.Leu119Arg | |
| XM_005265805.2:c.14T>G | XP_005265862.1:p.Leu5Arg | |
| XM_006714816.2:c.-144T>G | XP_006714879.1:n.-144T>G | |
| XM_011534421.1:c.14T>G | XP_011532723.1:p.Leu5Arg | |
| XM_006714816.4:c.-144T>G | XP_006714879.1:n.-144T>G | |
| XM_017008999.2:c.14T>G | XP_016864488.1:p.Leu5Arg | |
| NM_007255.3:c.356T>G MANE Select | NP_009186.1:p.Leu119Arg |