Linked Data
dbSNP Id:
rs2070874
ExAC:
5:132009710 C / T
gnomAD v2:
5-132009710-C-T
gnomAD v3:
5-132674018-C-T
gnomAD v4:
5-132674018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132674018C>T , CM000667.2:g.132674018C>T | GRCh38 |
| NC_000005.9:g.132009710C>T , CM000667.1:g.132009710C>T | GRCh37 |
| NC_000005.8:g.132037609C>T | NCBI36 |
| NG_023252.1:g.5338C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231449.7:c.-33C>T MANE Select | ENSP00000231449.2:n.-33C>T | |
| ENST00000231449.6:c.-33C>T | ENSP00000231449.2:n.-33C>T | |
| ENST00000622422.1:c.-33C>T | ENSP00000480581.1:n.-33C>T | |
| NM_000589.3:c.-33C>T | NP_000580.1:n.-33C>T | |
| NM_172348.2:c.-33C>T | NP_758858.1:n.-33C>T | |
| NM_001354990.1:c.-33C>T | NP_001341919.1:n.-33C>T | |
| NM_000589.4:c.-33C>T MANE Select | NP_000580.1:n.-33C>T | |
| NM_172348.3:c.-33C>T | NP_758858.1:n.-33C>T | |
| NM_001354990.2:c.-33C>T | NP_001341919.1:n.-33C>T |