Linked Data
dbSNP Id:
rs1176345994
gnomAD v2:
1-150532795-A-G
gnomAD v3:
1-150560319-A-G
gnomAD v4:
1-150560319-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150560319A>G , CM000663.2:g.150560319A>G | GRCh38 |
| NC_000001.10:g.150532795A>G , CM000663.1:g.150532795A>G | GRCh37 |
| NC_000001.9:g.148799419A>G | NCBI36 |
| NG_012172.1:g.15898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271643.9:c.*123A>G MANE Select | ENSP00000271643.4:n.*123A>G | |
| ENST00000674043.1:c.*123A>G | ENSP00000501295.1:n.*123A>G | |
| ENST00000674058.1:c.*123A>G | ENSP00000501255.1:n.*123A>G | |
| ENST00000271643.8:c.*123A>G | ENSP00000271643.4:n.*123A>G | |
| ENST00000369038.6:c.*123A>G | ENSP00000358034.2:n.*123A>G | |
| ENST00000369039.9:c.*123A>G | ENSP00000358035.5:n.*123A>G | |
| ENST00000489159.1:n.1185A>G | ||
| ENST00000622417.4:c.*652A>G | ENSP00000477897.1:n.*652A>G | |
| NM_001288607.1:c.*123A>G | NP_001275536.1:n.*123A>G | |
| NM_001288608.1:c.*123A>G | NP_001275537.1:n.*123A>G | |
| NM_019032.5:c.*123A>G | NP_061905.2:n.*123A>G | |
| XM_011509644.1:c.*123A>G | XP_011507946.1:n.*123A>G | |
| XM_011509645.1:c.*123A>G | XP_011507947.1:n.*123A>G | |
| XM_011509646.1:c.*123A>G | XP_011507948.1:n.*123A>G | |
| XM_011509647.1:c.*123A>G | XP_011507949.1:n.*123A>G | |
| XM_011509648.1:c.*123A>G | XP_011507950.1:n.*123A>G | |
| XM_011509651.1:c.*123A>G | XP_011507953.1:n.*123A>G | |
| XM_011509652.1:c.*123A>G | XP_011507954.1:n.*123A>G | |
| XR_921844.1:n.3917A>G | ||
| XM_011509644.3:c.*123A>G | XP_011507946.1:n.*123A>G | |
| XM_011509645.3:c.*123A>G | XP_011507947.1:n.*123A>G | |
| XM_011509648.3:c.*123A>G | XP_011507950.1:n.*123A>G | |
| XM_011509651.2:c.*123A>G | XP_011507953.1:n.*123A>G | |
| XM_011509652.2:c.*123A>G | XP_011507954.1:n.*123A>G | |
| XM_017001506.2:c.*123A>G | XP_016856995.1:n.*123A>G | |
| XM_017001507.1:c.*123A>G | XP_016856996.1:n.*123A>G | |
| XR_921844.3:n.3890A>G | ||
| NM_001288607.2:c.*123A>G | NP_001275536.1:n.*123A>G | |
| NM_001288608.2:c.*123A>G | NP_001275537.1:n.*123A>G | |
| NM_001378596.1:c.*123A>G | NP_001365525.1:n.*123A>G | |
| NM_019032.6:c.*123A>G MANE Select | NP_061905.2:n.*123A>G |