Linked Data
ClinVar Variation Id:
29774
dbSNP Id:
rs387906644
gnomAD v2:
3-49169568-T-C
gnomAD v3:
3-49132135-T-C
gnomAD v4:
3-49132135-T-C
PubMed:
PMID:21236492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49132135T>C , CM000665.2:g.49132135T>C | GRCh38 |
| NC_000003.11:g.49169568T>C , CM000665.1:g.49169568T>C | GRCh37 |
| NC_000003.10:g.49144572T>C | NCBI36 |
| NG_008094.1:g.6032A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.440A>G MANE Select | ENSP00000307156.4:p.His147Arg | |
| ENST00000305544.8:c.440A>G | ENSP00000307156.4:p.His147Arg | |
| ENST00000418109.5:c.440A>G | ENSP00000388325.1:p.His147Arg | |
| ENST00000494831.1:c.-8A>G | ENSP00000444751.1:n.-8A>G | |
| NM_002292.3:c.440A>G | NP_002283.3:p.His147Arg | |
| XM_005265127.3:c.440A>G | XP_005265184.1:p.His147Arg | |
| XM_005265127.4:c.440A>G | XP_005265184.1:p.His147Arg | |
| NM_002292.4:c.440A>G MANE Select | NP_002283.3:p.His147Arg |