Linked Data
dbSNP Id:
rs932271270
gnomAD v2:
11-57382074-G-T
gnomAD v3:
11-57614601-G-T
gnomAD v4:
11-57614601-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614601G>T , CM000673.2:g.57614601G>T | GRCh38 |
| NC_000011.9:g.57382074G>T , CM000673.1:g.57382074G>T | GRCh37 |
| NC_000011.8:g.57138650G>T | NCBI36 |
| NG_009625.1:g.22048G>T , LRG_105:g.22048G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.*20G>T MANE Select | ENSP00000278407.4:n.*20G>T | |
| ENST00000528996.2:c.*420G>T | ENSP00000431226.2:n.*420G>T | |
| ENST00000531605.2:c.*1299G>T | ENSP00000503752.1:n.*1299G>T | |
| ENST00000619430.2:c.*20G>T | ENSP00000478572.2:n.*20G>T | |
| ENST00000676670.1:c.*15+5G>T | ENSP00000504807.1:n.*15+5G>T | |
| ENST00000676741.1:n.2605G>T | ||
| ENST00000677624.1:c.*943G>T | ENSP00000503979.1:n.*943G>T | |
| ENST00000677625.1:c.*20G>T | ENSP00000502857.1:n.*20G>T | |
| ENST00000677856.1:n.1776G>T | ||
| ENST00000677915.1:c.*420G>T | ENSP00000503118.1:n.*420G>T | |
| ENST00000678533.1:c.*1072+5G>T | ENSP00000503873.1:n.*1072+5G>T | |
| ENST00000678592.1:c.*463G>T | ENSP00000504424.1:n.*463G>T | |
| ENST00000278407.8:c.*20G>T | ENSP00000278407.4:n.*20G>T | |
| ENST00000340687.10:c.*20G>T | ENSP00000341861.6:n.*20G>T | |
| ENST00000378323.8:c.*20G>T | ENSP00000367574.4:n.*20G>T | |
| ENST00000378324.6:c.*20G>T | ENSP00000367575.2:n.*20G>T | |
| ENST00000403558.1:c.*20G>T | ENSP00000384420.1:n.*20G>T | |
| ENST00000528996.1:c.724G>T | ENSP00000431226.1:n.724G>T | |
| ENST00000531797.5:c.*548G>T | ENSP00000432554.1:n.*548G>T | |
| NM_000062.2:c.*20G>T , LRG_105t1:c.*20G>T | NP_000053.2:n.*20G>T | |
| NM_001032295.1:c.*20G>T | NP_001027466.1:n.*20G>T | |
| NM_000062.3:c.*20G>T MANE Select | NP_000053.2:n.*20G>T | |
| NM_001032295.2:c.*20G>T | NP_001027466.1:n.*20G>T |