Linked Data
dbSNP Id:
rs1202400845
gnomAD v2:
16-3779040-G-A
gnomAD v3:
16-3729039-G-A
gnomAD v4:
16-3729039-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729039G>A , CM000678.2:g.3729039G>A | GRCh38 |
| NC_000016.9:g.3779040G>A , CM000678.1:g.3779040G>A | GRCh37 |
| NC_000016.8:g.3719041G>A | NCBI36 |
| NG_009873.1:g.156082C>T | |
| NG_009873.2:g.156675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6008C>T MANE Select | ENSP00000262367.5:p.Pro2003Leu | |
| ENST00000262367.9:c.6008C>T | ENSP00000262367.5:p.Pro2003Leu | |
| ENST00000382070.7:c.5894C>T | ENSP00000371502.3:p.Pro1965Leu | |
| NM_001079846.1:c.5894C>T | NP_001073315.1:p.Pro1965Leu | |
| NM_004380.2:c.6008C>T | NP_004371.2:p.Pro2003Leu | |
| XM_005255124.3:c.5963C>T | XP_005255181.1:p.Pro1988Leu | |
| XM_005255125.3:c.5591C>T | XP_005255182.1:p.Pro1864Leu | |
| XM_006720848.2:c.5747C>T | XP_006720911.1:p.Pro1916Leu | |
| XM_011522380.1:c.5954C>T | XP_011520682.1:p.Pro1985Leu | |
| XM_011522381.1:c.5255C>T | XP_011520683.1:p.Pro1752Leu | |
| XM_005255124.4:c.5963C>T | XP_005255181.1:p.Pro1988Leu | |
| XM_005255125.4:c.5591C>T | XP_005255182.1:p.Pro1864Leu | |
| XM_006720848.3:c.5747C>T | XP_006720911.1:p.Pro1916Leu | |
| XM_011522381.2:c.5255C>T | XP_011520683.1:p.Pro1752Leu | |
| XM_017022944.1:c.6002C>T | XP_016878433.1:p.Pro2001Leu | |
| NM_004380.3:c.6008C>T MANE Select | NP_004371.2:p.Pro2003Leu |