Linked Data
dbSNP Id:
rs768812549
ExAC:
22:32871071 T / C
gnomAD v2:
22-32871071-T-C
gnomAD v4:
22-32475084-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475084T>C , CM000684.2:g.32475084T>C | GRCh38 |
| NC_000022.10:g.32871071T>C , CM000684.1:g.32871071T>C | GRCh37 |
| NC_000022.9:g.31201071T>C | NCBI36 |
| NG_016001.1:g.5365T>C | |
| NG_016001.2:g.5365T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.82T>C MANE Select | ENSP00000266087.7:p.Ser28Pro | |
| ENST00000266087.11:c.82T>C | ENSP00000266087.7:p.Ser28Pro | |
| ENST00000420700.5:c.82T>C | ENSP00000406155.1:p.Ser28Pro | |
| ENST00000425028.5:c.82T>C | ENSP00000395823.1:p.Ser28Pro | |
| ENST00000492535.1:n.70T>C | ||
| NM_012179.3:c.82T>C | NP_036311.3:p.Ser28Pro | |
| XM_011530106.1:c.-92T>C | XP_011528408.1:n.-92T>C | |
| XM_024452207.1:c.-109T>C | XP_024307975.1:n.-109T>C | |
| NM_012179.4:c.82T>C MANE Select | NP_036311.3:p.Ser28Pro |