Linked Data
dbSNP Id:
rs373776620
ExAC:
5:34008156 G / A
gnomAD v2:
5-34008156-G-A
gnomAD v3:
5-34008051-G-A
gnomAD v4:
5-34008051-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34008051G>A , CM000667.2:g.34008051G>A | GRCh38 |
| NC_000005.9:g.34008156G>A , CM000667.1:g.34008156G>A | GRCh37 |
| NC_000005.8:g.34043913G>A | NCBI36 |
| NG_016211.1:g.5065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.10:c.-32C>T (AMACR) | ENSP00000334424.6:n.-32C>T | |
| ENST00000382079.3:c.690-2152C>T (C1QTNF3-AMACR) | ENSP00000371511.3:n.690-2152C>T | |
| ENST00000426255.6:c.-32C>T (AMACR) | ENSP00000476965.1:n.-32C>T | |
| ENST00000502637.5:c.-32C>T (AMACR) | ENSP00000424351.1:n.-32C>T | |
| NM_001167595.1:c.-32C>T (AMACR) | NP_001161067.1:n.-32C>T | |
| NM_014324.5:c.-32C>T (AMACR) | NP_055139.4:n.-32C>T | |
| NM_203382.2:c.-32C>T (AMACR) | NP_976316.1:n.-32C>T | |
| NR_037951.1:n.765-2152C>T (C1QTNF3-AMACR) |