Linked Data
dbSNP Id:
rs1385283838
gnomAD v2:
21-45709937-C-T
gnomAD v3:
21-44290054-C-T
gnomAD v4:
21-44290054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44290054C>T , CM000683.2:g.44290054C>T | GRCh38 |
| NC_000021.8:g.45709937C>T , CM000683.1:g.45709937C>T | GRCh37 |
| NC_000021.7:g.44534365C>T | NCBI36 |
| NG_009556.1:g.9175C>T , LRG_18:g.9175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.865C>T MANE Select | ENSP00000291582.5:p.Pro289Ser | |
| ENST00000291582.5:c.865C>T | ENSP00000291582.5:p.Pro289Ser | |
| ENST00000527919.5:n.1598C>T | ||
| ENST00000530812.5:n.2615C>T | ||
| NM_000383.3:c.865C>T | NP_000374.1:p.Pro289Ser | |
| XM_011529551.1:c.865C>T | XP_011527853.1:p.Pro289Ser | |
| NM_000383.4:c.865C>T MANE Select | NP_000374.1:p.Pro289Ser |