Linked Data
ClinVar Variation Id:
542996
dbSNP Id:
rs369169235
ExAC:
2:238267213 G / T
gnomAD v2:
2-238267213-G-T
gnomAD v3:
2-237358570-G-T
gnomAD v4:
2-237358570-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237358570G>T , CM000664.2:g.237358570G>T | GRCh38 |
| NC_000002.11:g.238267213G>T , CM000664.1:g.238267213G>T | GRCh37 |
| NC_000002.10:g.237931952G>T | NCBI36 |
| NG_008676.1:g.60638C>A , LRG_473:g.60638C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5804C>A | ENSP00000315873.4:p.Pro1935His | |
| ENST00000295550.9:c.6422C>A MANE Select | ENSP00000295550.4:p.Pro2141His | |
| ENST00000295550.8:c.6422C>A | ENSP00000295550.4:p.Pro2141His | |
| ENST00000347401.7:c.4601C>A | ENSP00000315609.4:p.Pro1534His | |
| ENST00000353578.8:c.5804C>A | ENSP00000315873.4:p.Pro1935His | |
| ENST00000409809.5:c.5804C>A | ENSP00000386844.1:p.Pro1935His | |
| ENST00000472056.5:c.4601C>A | ENSP00000418285.1:p.Pro1534His | |
| NM_004369.3:c.6422C>A , LRG_473t1:c.6422C>A | NP_004360.2:p.Pro2141His | |
| NM_057166.4:c.4601C>A | NP_476507.3:p.Pro1534His | |
| NM_057167.3:c.5804C>A | NP_476508.2:p.Pro1935His | |
| XM_005246065.1:c.5822C>A | XP_005246122.1:p.Pro1941His | |
| XM_005246066.1:c.5201C>A | XP_005246123.1:p.Pro1734His | |
| XM_006712253.1:c.5921C>A | XP_006712316.1:p.Pro1974His | |
| XM_011510574.1:c.6419C>A | XP_011508876.1:p.Pro2140His | |
| XM_011510575.1:c.4016C>A | XP_011508877.1:p.Pro1339His | |
| XM_017003304.1:c.4016C>A | XP_016858793.1:p.Pro1339His | |
| XM_024452684.1:c.5201C>A | XP_024308452.1:p.Pro1734His | |
| NM_004369.4:c.6422C>A MANE Select | NP_004360.2:p.Pro2141His | |
| NM_057166.5:c.4601C>A | NP_476507.3:p.Pro1534His | |
| NM_057167.4:c.5804C>A | NP_476508.2:p.Pro1935His |