Linked Data
dbSNP Id:
rs2227692
gnomAD v2:
7-100779244-C-T
gnomAD v3:
7-101135963-C-T
gnomAD v4:
7-101135963-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101135963C>T , CM000669.2:g.101135963C>T | GRCh38 |
| NC_000007.13:g.100779244C>T , CM000669.1:g.100779244C>T | GRCh37 |
| NC_000007.12:g.100565964C>T | NCBI36 |
| NG_013213.1:g.13866C>T , LRG_597:g.13866C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223095.5:c.1087+162C>T MANE Select | ENSP00000223095.4:n.1087+162C>T | |
| ENST00000223095.4:c.1087+162C>T | ENSP00000223095.4:n.1087+162C>T | |
| NM_000602.4:c.1087+162C>T , LRG_597t1:c.1087+162C>T | NP_000593.1:n.1087+162C>T | |
| NM_000602.5:c.1087+162C>T MANE Select | NP_000593.1:n.1087+162C>T | |
| NM_001386456.1:c.835+162C>T | NP_001373385.1:n.835+162C>T | |
| NM_001386457.1:c.1000+369C>T | NP_001373386.1:n.1000+369C>T | |
| NM_001386458.1:c.1087+162C>T | NP_001373387.1:n.1087+162C>T | |
| NM_001386459.1:c.1087+162C>T | NP_001373388.1:n.1087+162C>T | |
| NM_001386460.1:c.1087+162C>T | NP_001373389.1:n.1087+162C>T | |
| NM_001386461.1:c.1087+162C>T | NP_001373390.1:n.1087+162C>T | |
| NM_001386462.1:c.886+162C>T | NP_001373391.1:n.886+162C>T | |
| NM_001386463.1:c.1081+162C>T | NP_001373392.1:n.1081+162C>T | |
| NM_001386464.1:c.1087+162C>T | NP_001373393.1:n.1087+162C>T | |
| NM_001386465.1:c.1102+147C>T | NP_001373394.1:n.1102+147C>T | |
| NM_001386466.1:c.1111+162C>T | NP_001373395.1:n.1111+162C>T |