Linked Data
dbSNP Id:
rs747317417
ExAC:
22:32500795 T / C
gnomAD v2:
22-32500795-T-C
gnomAD v4:
22-32104808-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104808T>C , CM000684.2:g.32104808T>C | GRCh38 |
| NC_000022.10:g.32500795T>C , CM000684.1:g.32500795T>C | GRCh37 |
| NC_000022.9:g.30830795T>C | NCBI36 |
| NG_017045.1:g.66777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1688T>C MANE Select | ENSP00000266088.4:p.Leu563Pro | |
| ENST00000266088.8:c.1688T>C | ENSP00000266088.4:p.Leu563Pro | |
| ENST00000543737.2:c.1307T>C | ENSP00000444898.1:p.Leu436Pro | |
| NM_000343.3:c.1688T>C | NP_000334.1:p.Leu563Pro | |
| NM_001256314.1:c.1307T>C | NP_001243243.1:p.Leu436Pro | |
| XR_938173.1:n.591+2030A>G | ||
| XR_938174.1:n.486+15047A>G | ||
| NM_000343.4:c.1688T>C MANE Select | NP_000334.1:p.Leu563Pro | |
| NM_001256314.2:c.1307T>C | NP_001243243.1:p.Leu436Pro |