Linked Data
dbSNP Id:
rs970064070
gnomAD v2:
7-141672612-T-G
gnomAD v3:
7-141972812-T-G
gnomAD v4:
7-141972812-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141972812T>G , CM000669.2:g.141972812T>G | GRCh38 |
| NC_000007.13:g.141672612T>G , CM000669.1:g.141672612T>G | GRCh37 |
| NC_000007.12:g.141319081T>G | NCBI36 |
| NG_016141.1:g.5962A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465654.5:c.-3+26815T>G (MGAM) | ENSP00000419372.1:n.-3+26815T>G | |
| ENST00000547270.1:c.878A>C (TAS2R38) MANE Select | ENSP00000448219.1:p.His293Pro | |
| NM_176817.4:c.878A>C (TAS2R38) | NP_789787.4:p.His293Pro | |
| XM_011515783.1:c.*25-13584T>G (OR9A4) | XP_011514085.1:n.*25-13584T>G | |
| NM_176817.5:c.878A>C (TAS2R38) MANE Select | NP_789787.5:p.His293Pro |