Linked Data
dbSNP Id:
rs374286402
ExAC:
17:1631910 G / A
gnomAD v2:
17-1631910-G-A
gnomAD v4:
17-1728616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1728616G>A , CM000679.2:g.1728616G>A | GRCh38 |
| NC_000017.10:g.1631910G>A , CM000679.1:g.1631910G>A | GRCh37 |
| NC_000017.9:g.1578660G>A | NCBI36 |
| NG_032811.1:g.17094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.3657G>A MANE Select | ENSP00000386609.1:p.Lys1219= | |
| ENST00000309182.9:c.504G>A | ENSP00000312074.5:p.Lys168= | |
| ENST00000409644.5:c.3657G>A | ENSP00000386609.1:p.Lys1219= | |
| ENST00000418841.5:c.-88-3709G>A | ENSP00000395198.1:n.-88-3709G>A | |
| ENST00000419248.5:c.-14-1764G>A | ENSP00000407845.1:n.-14-1764G>A | |
| ENST00000437219.6:c.59-1764G>A | ENSP00000391074.2:n.59-1764G>A | |
| ENST00000446363.5:c.-308-2139G>A | ENSP00000401560.1:n.-308-2139G>A | |
| ENST00000455636.5:c.59-1764G>A | ENSP00000395226.1:n.59-1764G>A | |
| ENST00000464528.5:n.1043G>A | ||
| ENST00000468539.5:c.63-3709G>A | ENSP00000460742.1:n.63-3709G>A | |
| ENST00000492901.1:n.88-1764G>A | ||
| ENST00000575206.1:c.407G>A | ||
| NM_001163673.1:c.59-1764G>A | NP_001157145.1:n.59-1764G>A | |
| NM_001163809.1:c.3657G>A | NP_001157281.1:p.Lys1219= | |
| NM_001163811.1:c.-14-1764G>A | NP_001157283.1:n.-14-1764G>A | |
| NM_152348.3:c.504G>A | NP_689561.2:p.Lys168= | |
| XM_005256454.2:c.3657G>A | XP_005256511.1:p.Lys1219= | |
| XM_011523650.1:c.3657G>A | XP_011521952.1:p.Lys1219= | |
| XM_011523651.1:c.504G>A | XP_011521953.1:p.Lys168= | |
| XR_933973.1:n.3801G>A | ||
| XM_011523651.2:c.504G>A | XP_011521953.1:p.Lys168= | |
| XM_017024184.1:c.3657G>A | XP_016879673.1:p.Lys1219= | |
| XR_001752427.1:n.3809G>A | ||
| XR_933973.2:n.3809G>A | ||
| NM_001163809.2:c.3657G>A MANE Select | NP_001157281.1:p.Lys1219= | |
| NM_001163811.2:c.-14-1764G>A | NP_001157283.1:n.-14-1764G>A | |
| NM_152348.4:c.504G>A | NP_689561.2:p.Lys168= | |
| NM_001163673.2:c.59-1764G>A | NP_001157145.1:n.59-1764G>A |