Linked Data
dbSNP Id:
rs2607142
gnomAD v2:
5-78557948-T-C
gnomAD v3:
5-79262125-T-C
gnomAD v4:
5-79262125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79262125T>C , CM000667.2:g.79262125T>C | GRCh38 |
| NC_000005.9:g.78557948T>C , CM000667.1:g.78557948T>C | GRCh37 |
| NC_000005.8:g.78593704T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396137.5:c.1033-15785T>C MANE Select | ENSP00000379441.4:n.1033-15785T>C | |
| ENST00000396137.4:c.1033-15785T>C | ENSP00000379441.4:n.1033-15785T>C | |
| NM_152405.4:c.1033-15785T>C | NP_689618.4:n.1033-15785T>C | |
| XM_005248430.1:c.1033-15785T>C | XP_005248487.1:n.1033-15785T>C | |
| XM_011543155.1:c.1033-15785T>C | XP_011541457.1:n.1033-15785T>C | |
| XM_005248430.3:c.1033-15785T>C | XP_005248487.1:n.1033-15785T>C | |
| XM_011543155.3:c.1033-15785T>C | XP_011541457.1:n.1033-15785T>C | |
| NM_152405.5:c.1033-15785T>C MANE Select | NP_689618.4:n.1033-15785T>C |