Linked Data
dbSNP Id:
rs138515445
ExAC:
8:42587665 T / C
gnomAD v2:
8-42587665-T-C
gnomAD v4:
8-42732522-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732522T>C , CM000670.2:g.42732522T>C | GRCh38 |
| NC_000008.10:g.42587665T>C , CM000670.1:g.42587665T>C | GRCh37 |
| NC_000008.9:g.42706822T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1215T>C MANE Select | ENSP00000289957.2:p.His405= | |
| ENST00000289957.2:c.1215T>C | ENSP00000289957.2:p.His405= | |
| NM_000749.3:c.1215T>C | NP_000740.1:p.His405= | |
| XM_011544390.1:c.828T>C | XP_011542692.1:p.His276= | |
| NM_000749.4:c.1215T>C | NP_000740.1:p.His405= | |
| NM_001347717.1:c.993T>C | NP_001334646.1:p.His331= | |
| XM_011544390.2:c.828T>C | XP_011542692.1:p.His276= | |
| NM_000749.5:c.1215T>C MANE Select | NP_000740.1:p.His405= | |
| NM_001347717.2:c.993T>C | NP_001334646.1:p.His331= |