Linked Data
dbSNP Id:
rs758101123
ExAC:
16:3779058 G / A
gnomAD v2:
16-3779058-G-A
gnomAD v4:
16-3729057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729057G>A , CM000678.2:g.3729057G>A | GRCh38 |
| NC_000016.9:g.3779058G>A , CM000678.1:g.3779058G>A | GRCh37 |
| NC_000016.8:g.3719059G>A | NCBI36 |
| NG_009873.1:g.156064C>T | |
| NG_009873.2:g.156657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5990C>T MANE Select | ENSP00000262367.5:p.Pro1997Leu | |
| ENST00000262367.9:c.5990C>T | ENSP00000262367.5:p.Pro1997Leu | |
| ENST00000382070.7:c.5876C>T | ENSP00000371502.3:p.Pro1959Leu | |
| NM_001079846.1:c.5876C>T | NP_001073315.1:p.Pro1959Leu | |
| NM_004380.2:c.5990C>T | NP_004371.2:p.Pro1997Leu | |
| XM_005255124.3:c.5945C>T | XP_005255181.1:p.Pro1982Leu | |
| XM_005255125.3:c.5573C>T | XP_005255182.1:p.Pro1858Leu | |
| XM_006720848.2:c.5729C>T | XP_006720911.1:p.Pro1910Leu | |
| XM_011522380.1:c.5936C>T | XP_011520682.1:p.Pro1979Leu | |
| XM_011522381.1:c.5237C>T | XP_011520683.1:p.Pro1746Leu | |
| XM_005255124.4:c.5945C>T | XP_005255181.1:p.Pro1982Leu | |
| XM_005255125.4:c.5573C>T | XP_005255182.1:p.Pro1858Leu | |
| XM_006720848.3:c.5729C>T | XP_006720911.1:p.Pro1910Leu | |
| XM_011522381.2:c.5237C>T | XP_011520683.1:p.Pro1746Leu | |
| XM_017022944.1:c.5984C>T | XP_016878433.1:p.Pro1995Leu | |
| NM_004380.3:c.5990C>T MANE Select | NP_004371.2:p.Pro1997Leu |