Linked Data
dbSNP Id:
rs1555152760
gnomAD v2:
12-7083673-C-G
gnomAD v4:
12-6974511-C-G
MyVariant Identifiers:
chr12:g.7083673C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974511C>G , CM000674.2:g.6974511C>G | GRCh38 |
| NC_000012.11:g.7083673C>G , CM000674.1:g.7083673C>G | GRCh37 |
| NC_000012.10:g.6953934C>G | NCBI36 |
| NG_021408.1:g.8731C>G | |
| NG_021408.2:g.8731C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599672.6:c.271-41C>G MANE Select | ENSP00000470560.1:n.271-41C>G | |
| ENST00000261406.7:c.253-41C>G | ENSP00000476966.2:n.253-41C>G | |
| ENST00000539196.2:c.134-41C>G | ||
| ENST00000599672.5:c.271-41C>G | ENSP00000470560.1:n.271-41C>G | |
| ENST00000607161.5:c.274-41C>G | ENSP00000480420.1:n.274-41C>G | |
| ENST00000611981.1:n.282-41C>G | ||
| ENST00000620255.1:n.330C>G | ||
| NM_006331.7:c.271-41C>G | NP_006322.4:n.271-41C>G | |
| XM_011520907.1:c.271-41C>G | XP_011519209.1:n.271-41C>G | |
| NM_001320049.1:c.271-41C>G | NP_001306978.1:n.271-41C>G | |
| NR_135131.1:n.414-41C>G | ||
| NM_006331.8:c.271-41C>G MANE Select | NP_006322.4:n.271-41C>G | |
| NM_001320049.2:c.271-41C>G | NP_001306978.1:n.271-41C>G | |
| NR_135131.2:n.282-41C>G |