Linked Data
dbSNP Id:
rs565391275
gnomAD v2:
5-131705461-C-T
gnomAD v3:
5-132369769-C-T
gnomAD v4:
5-132369769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369769C>T , CM000667.2:g.132369769C>T | GRCh38 |
| NC_000005.9:g.131705461C>T , CM000667.1:g.131705461C>T | GRCh37 |
| NC_000005.8:g.131733360C>T | NCBI36 |
| NG_008982.1:g.5061C>T | |
| NG_008982.2:g.5066C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245407.8:c.-204C>T (SLC22A5) MANE Select | ENSP00000245407.3:n.-204C>T | |
| ENST00000245407.7:c.-204C>T (SLC22A5) | ENSP00000245407.3:n.-204C>T | |
| NM_001308122.1:c.-204C>T (SLC22A5) | NP_001295051.1:n.-204C>T | |
| NM_003060.3:c.-204C>T (SLC22A5) | NP_003051.1:n.-204C>T | |
| NR_110997.1:n.73+75G>A (MIR3936HG) | ||
| XR_427718.1:n.66C>T (SLC22A5) | ||
| XR_948290.1:n.66C>T (SLC22A5) | ||
| XR_948291.1:n.66C>T (SLC22A5) | ||
| XR_001742215.1:n.66C>T (SLC22A5) | ||
| XR_001742216.1:n.66C>T (SLC22A5) | ||
| XR_427718.2:n.66C>T (SLC22A5) | ||
| XR_948290.2:n.66C>T (SLC22A5) | ||
| XR_948291.2:n.66C>T (SLC22A5) | ||
| NM_003060.4:c.-204C>T (SLC22A5) MANE Select | NP_003051.1:n.-204C>T | |
| NM_001308122.2:c.-204C>T (SLC22A5) | NP_001295051.1:n.-204C>T |