Linked Data
dbSNP Id:
rs1263825799
gnomAD v2:
1-169455022-G-A
gnomAD v3:
1-169485784-G-A
gnomAD v4:
1-169485784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485784G>A , CM000663.2:g.169485784G>A | GRCh38 |
| NC_000001.10:g.169455022G>A , CM000663.1:g.169455022G>A | GRCh37 |
| NC_000001.9:g.167721646G>A | NCBI36 |
| NG_008255.1:g.5187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.-18C>T MANE Select | ENSP00000236137.5:n.-18C>T | |
| ENST00000646596.1:c.-18C>T | ENSP00000494404.1:n.-18C>T | |
| ENST00000236137.9:c.-18C>T | ENSP00000236137.5:n.-18C>T | |
| ENST00000367804.4:c.-18C>T | ENSP00000356778.3:n.-18C>T | |
| NM_006996.2:c.-18C>T | NP_008927.1:n.-18C>T | |
| XM_011509076.1:c.12+269C>T | XP_011507378.1:n.12+269C>T | |
| XM_011509077.1:c.-18C>T | XP_011507379.1:n.-18C>T | |
| NM_001319667.1:c.-18C>T | NP_001306596.1:n.-18C>T | |
| NM_006996.3:c.-18C>T MANE Select | NP_008927.1:n.-18C>T |