Linked Data
dbSNP Id:
rs1299723180
gnomAD v2:
22-23650914-C-T
gnomAD v3:
22-23308727-C-T
gnomAD v4:
22-23308727-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23308727C>T , CM000684.2:g.23308727C>T | GRCh38 |
| NC_000022.10:g.23650914C>T , CM000684.1:g.23650914C>T | GRCh37 |
| NC_000022.9:g.21980914C>T | NCBI36 |
| NG_009244.1:g.133363C>T | |
| NG_009244.2:g.133363C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305877.13:c.3013-697C>T MANE Select | ENSP00000303507.8:n.3013-697C>T | |
| ENST00000305877.12:c.3013-697C>T | ENSP00000303507.8:n.3013-697C>T | |
| ENST00000359540.7:c.2881-697C>T | ENSP00000352535.3:n.2881-697C>T | |
| ENST00000398512.9:c.1709-697C>T | ENSP00000381524.6:n.1709-697C>T | |
| ENST00000419722.6:n.238-697C>T | ||
| ENST00000475025.5:n.87-697C>T | ||
| ENST00000478978.5:n.294-697C>T | ||
| NM_004327.3:c.3013-697C>T | NP_004318.3:n.3013-697C>T | |
| NM_021574.2:c.2881-697C>T | NP_067585.2:n.2881-697C>T | |
| NM_004327.4:c.3013-697C>T MANE Select | NP_004318.3:n.3013-697C>T | |
| NM_021574.3:c.2881-697C>T | NP_067585.2:n.2881-697C>T |