Linked Data
ClinVar Variation Id:
2906
ClinVar RCV Id:
RCV000003040
dbSNP Id:
rs10246939
ExAC:
7:141672604 T / C
gnomAD v2:
7-141672604-T-C
gnomAD v3:
7-141972804-T-C
gnomAD v4:
7-141972804-T-C
PubMed:
PMID:12595690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141972804T>C , CM000669.2:g.141972804T>C | GRCh38 |
| NC_000007.13:g.141672604T>C , CM000669.1:g.141672604T>C | GRCh37 |
| NC_000007.12:g.141319073T>C | NCBI36 |
| NG_016141.1:g.5970A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465654.5:c.-3+26807T>C (MGAM) | ENSP00000419372.1:n.-3+26807T>C | |
| ENST00000547270.1:c.886A>G (TAS2R38) MANE Select | ENSP00000448219.1:p.Ile296Val | |
| NM_176817.4:c.886A>G (TAS2R38) | NP_789787.4:p.Ile296Val | |
| XM_011515783.1:c.*25-13592T>C (OR9A4) | XP_011514085.1:n.*25-13592T>C | |
| NM_176817.5:c.886A>G (TAS2R38) MANE Select | NP_789787.5:p.Ile296Val |