Linked Data
ClinVar Variation Id:
337079
dbSNP Id:
rs771075973
ExAC:
2:74593378 G / T
gnomAD v2:
2-74593378-G-T
gnomAD v4:
2-74366251-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74366251G>T , CM000664.2:g.74366251G>T | GRCh38 |
| NC_000002.11:g.74593378G>T , CM000664.1:g.74593378G>T | GRCh37 |
| NC_000002.10:g.74446886G>T | NCBI36 |
| NG_008735.2:g.30837C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.2753C>A | ENSP00000354791.4:p.Pro918His | |
| ENST00000628224.3:c.2753C>A MANE Select | ENSP00000487279.2:p.Pro918His | |
| ENST00000680606.1:c.2702C>A | ENSP00000505612.1:p.Pro901His | |
| ENST00000361874.7:c.2753C>A | ENSP00000354791.3:p.Pro918His | |
| ENST00000394003.7:c.2732C>A | ENSP00000377571.3:p.Pro911His | |
| ENST00000409240.5:c.2642C>A | ENSP00000386406.1:p.Pro881His | |
| ENST00000409438.5:c.2351C>A | ENSP00000387270.1:p.Pro784His | |
| ENST00000409567.7:c.2693C>A | ENSP00000386843.3:p.Pro898His | |
| ENST00000409868.5:c.2702C>A | ENSP00000387327.1:p.Pro901His | |
| ENST00000434055.5:c.*52C>A | ENSP00000416711.1:n.*52C>A | |
| ENST00000466110.5:n.3732C>A | ||
| ENST00000495643.1:n.619C>A | ||
| ENST00000497666.1:n.96+3049C>A | ||
| ENST00000628224.2:c.2702C>A | ENSP00000487279.1:p.Pro901His | |
| ENST00000633691.1:c.2351C>A | ENSP00000487724.1:p.Pro784His | |
| NM_001135040.2:c.2693C>A | NP_001128512.1:p.Pro898His | |
| NM_001135041.2:c.2351C>A | NP_001128513.1:p.Pro784His | |
| NM_001190836.1:c.2642C>A | NP_001177765.1:p.Pro881His | |
| NM_001190837.1:c.2732C>A | NP_001177766.1:p.Pro911His | |
| NM_004082.4:c.2753C>A | NP_004073.2:p.Pro918His | |
| NM_023019.3:c.2351C>A | NP_075408.1:p.Pro784His | |
| NR_033935.1:n.3037C>A | ||
| NM_001135040.3:c.2693C>A | NP_001128512.1:p.Pro898His | |
| NM_001135041.3:c.2351C>A | NP_001128513.1:p.Pro784His | |
| NM_001190836.2:c.2642C>A | NP_001177765.1:p.Pro881His | |
| NM_001190837.2:c.2732C>A | NP_001177766.1:p.Pro911His | |
| NM_001378991.1:c.2702C>A | NP_001365920.1:p.Pro901His | |
| NM_001378992.1:c.2684C>A | NP_001365921.1:p.Pro895His | |
| NM_004082.5:c.2753C>A MANE Select | NP_004073.2:p.Pro918His | |
| NM_023019.4:c.2351C>A | NP_075408.1:p.Pro784His | |
| NR_033935.2:n.2816C>A |