Linked Data
dbSNP Id:
rs750480720
ExAC:
7:70228114 C / A
gnomAD v2:
7-70228114-C-A
gnomAD v4:
7-70763128-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70763128C>A , CM000669.2:g.70763128C>A | GRCh38 |
| NC_000007.13:g.70228114C>A , CM000669.1:g.70228114C>A | GRCh37 |
| NC_000007.12:g.69866050C>A | NCBI36 |
| NG_034133.1:g.1169210C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.1001C>A MANE Select | ENSP00000344087.4:p.Pro334His | |
| ENST00000443672.2:c.-197-2986C>A | ENSP00000393548.2:n.-197-2986C>A | |
| ENST00000644359.1:c.-371C>A | ENSP00000494561.1:n.-371C>A | |
| ENST00000644506.1:c.-371C>A | ENSP00000496672.1:n.-371C>A | |
| ENST00000644939.1:c.1001C>A | ENSP00000496726.1:p.Pro334His | |
| ENST00000656200.1:c.-374C>A | ENSP00000499508.1:n.-374C>A | |
| ENST00000342771.8:c.1001C>A | ENSP00000344087.4:p.Pro334His | |
| ENST00000406775.6:c.1001C>A | ENSP00000385263.2:p.Pro334His | |
| ENST00000416482.1:c.342C>A | ||
| ENST00000611706.4:c.257C>A | ENSP00000478134.1:p.Pro86His | |
| ENST00000615871.4:c.257C>A | ENSP00000479325.1:p.Pro86His | |
| NM_001127231.2:c.1001C>A | NP_001120703.1:p.Pro334His | |
| NM_015570.3:c.1001C>A | NP_056385.1:p.Pro334His | |
| XM_011516010.1:c.1001C>A | XP_011514312.1:p.Pro334His | |
| XM_011516011.1:c.1001C>A | XP_011514313.1:p.Pro334His | |
| XM_011516012.1:c.1001C>A | XP_011514314.1:p.Pro334His | |
| XM_011516013.1:c.1001C>A | XP_011514315.1:p.Pro334His | |
| XM_011516014.1:c.1001C>A | XP_011514316.1:p.Pro334His | |
| XM_011516015.1:c.1001C>A | XP_011514317.1:p.Pro334His | |
| XM_011516016.1:c.710C>A | XP_011514318.1:p.Pro237His | |
| XM_011516017.1:c.527C>A | XP_011514319.1:p.Pro176His | |
| XM_011516018.1:c.500C>A | XP_011514320.1:p.Pro167His | |
| XM_011516010.2:c.1001C>A | XP_011514312.1:p.Pro334His | |
| XM_011516011.2:c.1001C>A | XP_011514313.1:p.Pro334His | |
| XM_011516012.2:c.1001C>A | XP_011514314.1:p.Pro334His | |
| XM_011516013.2:c.1001C>A | XP_011514315.1:p.Pro334His | |
| XM_011516014.2:c.1001C>A | XP_011514316.1:p.Pro334His | |
| XM_011516017.2:c.527C>A | XP_011514319.1:p.Pro176His | |
| XM_011516018.2:c.500C>A | XP_011514320.1:p.Pro167His | |
| XM_017011951.2:c.1001C>A | XP_016867440.1:p.Pro334His | |
| NM_001127231.3:c.1001C>A | NP_001120703.1:p.Pro334His | |
| NM_015570.4:c.1001C>A MANE Select | NP_056385.1:p.Pro334His |