Linked Data
ClinVar Variation Id:
8624
ClinVar RCV Id:
RCV000009156
dbSNP Id:
rs104894666
gnomAD v2:
19-2250666-C-T
gnomAD v3:
19-2250667-C-T
gnomAD v4:
19-2250667-C-T
PubMed:
PMID:1483695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2250667C>T , CM000681.2:g.2250667C>T | GRCh38 |
| NC_000019.9:g.2250666C>T , CM000681.1:g.2250666C>T | GRCh37 |
| NC_000019.8:g.2201666C>T | NCBI36 |
| NG_012190.1:g.6554C>T | |
| NG_032853.1:g.10757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.571C>T (AMH) MANE Select | ENSP00000221496.2:p.Arg191Ter | |
| ENST00000221496.4:c.571C>T (AMH) | ENSP00000221496.2:p.Arg191Ter | |
| ENST00000589313.2:n.924C>T (AMH) | ||
| ENST00000592877.1:n.452C>T (AMH) | ||
| NM_000479.3:c.571C>T (AMH) | NP_000470.2:p.Arg191Ter | |
| NR_036207.1:n.29C>T (MIR4321) | ||
| NM_000479.4:c.571C>T (AMH) | NP_000470.2:p.Arg191Ter | |
| NM_000479.5:c.571C>T (AMH) MANE Select | NP_000470.3:p.Arg191Ter |