Linked Data
dbSNP Id:
rs2081015
gnomAD v2:
5-153606932-C-T
gnomAD v3:
5-154227372-C-T
gnomAD v4:
5-154227372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154227372C>T , CM000667.2:g.154227372C>T | GRCh38 |
| NC_000005.9:g.153606932C>T , CM000667.1:g.153606932C>T | GRCh37 |
| NC_000005.8:g.153587125C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297107.11:c.159+36347C>T MANE Select | ENSP00000297107.6:n.159+36347C>T | |
| ENST00000297107.10:c.159+36347C>T | ENSP00000297107.6:n.159+36347C>T | |
| ENST00000377661.2:c.159+36347C>T | ENSP00000366889.2:n.159+36347C>T | |
| ENST00000425427.6:c.159+36347C>T | ENSP00000415210.2:n.159+36347C>T | |
| ENST00000520647.5:c.159+36347C>T | ENSP00000428573.1:n.159+36347C>T | |
| ENST00000521781.5:n.150+9223C>T | ||
| NM_198321.3:c.159+36347C>T | NP_938080.1:n.159+36347C>T | |
| NM_198321.4:c.159+36347C>T MANE Select | NP_938080.1:n.159+36347C>T |