Linked Data
dbSNP Id:
rs17137734
gnomAD v2:
15-27507773-C-T
gnomAD v3:
15-27262626-C-T
gnomAD v4:
15-27262626-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27262626C>T , CM000677.2:g.27262626C>T | GRCh38 |
| NC_000015.9:g.27507773C>T , CM000677.1:g.27507773C>T | GRCh37 |
| NC_000015.8:g.25090519C>T | NCBI36 |
| NG_032887.1:g.296345C>T | |
| NG_032887.2:g.296446C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615808.5:c.271-64183C>T MANE Select | ENSP00000479113.1:n.271-64183C>T | |
| ENST00000555083.5:c.271-64183C>T | ENSP00000452244.1:n.271-64183C>T | |
| ENST00000615808.4:c.271-64183C>T | ENSP00000479113.1:n.271-64183C>T | |
| NM_001270873.1:c.271-64183C>T | NP_001257802.1:n.271-64183C>T | |
| NM_033223.4:c.271-64183C>T | NP_150092.2:n.271-64183C>T | |
| XM_011521430.1:c.271-64183C>T | XP_011519732.1:n.271-64183C>T | |
| XM_011521430.3:c.271-64183C>T | XP_011519732.1:n.271-64183C>T | |
| NM_033223.5:c.271-64183C>T MANE Select | NP_150092.2:n.271-64183C>T | |
| NM_001270873.2:c.271-64183C>T | NP_001257802.1:n.271-64183C>T |