Linked Data
dbSNP Id:
rs2555603
gnomAD v2:
13-33798262-A-C
gnomAD v3:
13-33224125-A-C
gnomAD v4:
13-33224125-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33224125A>C , CM000675.2:g.33224125A>C | GRCh38 |
| NC_000013.10:g.33798262A>C , CM000675.1:g.33798262A>C | GRCh37 |
| NC_000013.9:g.32696262A>C | NCBI36 |
| NG_029752.1:g.66640T>G | |
| NG_029752.2:g.457711T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567873.2:c.125-56503T>G | ENSP00000456233.2:n.125-56503T>G | |
| ENST00000336934.10:c.170-56503T>G MANE Select | ENSP00000338785.4:n.170-56503T>G | |
| ENST00000336934.9:c.170-56503T>G | ENSP00000338785.4:n.170-56503T>G | |
| ENST00000487412.5:n.287-56503T>G | ||
| ENST00000498019.2:n.239-56503T>G | ||
| ENST00000567873.1:c.125-56503T>G | ENSP00000456233.1:n.125-56503T>G | |
| NM_001243476.2:c.65-56503T>G | NP_001230405.1:n.65-56503T>G | |
| NM_178006.3:c.170-56503T>G | NP_821074.1:n.170-56503T>G | |
| XM_011535298.1:c.203-56503T>G | XP_011533600.1:n.203-56503T>G | |
| XM_011535299.1:c.65-56503T>G | XP_011533601.1:n.65-56503T>G | |
| XM_011535299.3:c.65-56503T>G | XP_011533601.1:n.65-56503T>G | |
| XM_017020834.2:c.125-56503T>G | XP_016876323.1:n.125-56503T>G | |
| XM_017020835.2:c.65-56503T>G | XP_016876324.1:n.65-56503T>G | |
| XM_024449429.1:c.65-56503T>G | XP_024305197.1:n.65-56503T>G | |
| NM_178006.4:c.170-56503T>G MANE Select | NP_821074.1:n.170-56503T>G | |
| NM_001243476.3:c.65-56503T>G | NP_001230405.1:n.65-56503T>G |