Linked Data
dbSNP Id:
rs1767913517
gnomAD v4:
5-177604191-C-G
MyVariant Identifiers:
chr5:g.177031192C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604191C>G , CM000667.2:g.177604191C>G | GRCh38 |
| NC_000005.9:g.177031192C>G , CM000667.1:g.177031192C>G | GRCh37 |
| NC_000005.8:g.176963798C>G | NCBI36 |
| NG_015977.1:g.9074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.63C>G MANE Select | ENSP00000029410.5:p.Leu21= | |
| ENST00000029410.9:c.63C>G | ENSP00000029410.5:p.Leu21= | |
| ENST00000502420.1:n.130-88C>G | ||
| ENST00000505433.5:c.63C>G | ENSP00000425591.1:p.Leu21= | |
| ENST00000505468.1:c.-280C>G | ENSP00000420886.1:n.-280C>G | |
| ENST00000510761.1:c.-280C>G | ENSP00000423438.1:n.-280C>G | |
| NM_007255.2:c.63C>G | NP_009186.1:p.Leu21= | |
| XM_005265805.2:c.-280C>G | XP_005265862.1:n.-280C>G | |
| XM_006714816.2:c.-437C>G | XP_006714879.1:n.-437C>G | |
| XM_011534421.1:c.-280C>G | XP_011532723.1:n.-280C>G | |
| XM_006714816.4:c.-437C>G | XP_006714879.1:n.-437C>G | |
| XM_017008999.2:c.-280C>G | XP_016864488.1:n.-280C>G | |
| NM_007255.3:c.63C>G MANE Select | NP_009186.1:p.Leu21= |