Linked Data
dbSNP Id:
rs1944336591
gnomAD v4:
12-6036390-A-G
MyVariant Identifiers:
chr12:g.6145556A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036390A>G , CM000674.2:g.6036390A>G | GRCh38 |
| NC_000012.11:g.6145556A>G , CM000674.1:g.6145556A>G | GRCh37 |
| NC_000012.10:g.6015817A>G | NCBI36 |
| NG_009072.1:g.93281T>C | |
| NG_009072.2:g.93281T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2544T>C MANE Select | ENSP00000261405.5:p.Thr848= | |
| ENST00000261405.9:c.2544T>C | ENSP00000261405.5:p.Thr848= | |
| ENST00000538635.5:n.421-42456T>C | ||
| NM_000552.3:c.2544T>C | NP_000543.2:p.Thr848= | |
| NM_000552.4:c.2544T>C | NP_000543.2:p.Thr848= | |
| NM_000552.5:c.2544T>C MANE Select | NP_000543.3:p.Thr848= |