Linked Data
dbSNP Id:
rs1380576
gnomAD v2:
1-204488278-G-C
gnomAD v3:
1-204519150-G-C
gnomAD v4:
1-204519150-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204519150G>C , CM000663.2:g.204519150G>C | GRCh38 |
| NC_000001.10:g.204488278G>C , CM000663.1:g.204488278G>C | GRCh37 |
| NC_000001.9:g.202754901G>C | NCBI36 |
| NG_029367.1:g.7772G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367182.8:c.-36+2641G>C MANE Select | ENSP00000356150.3:n.-36+2641G>C | |
| ENST00000367182.7:c.-36+2641G>C | ENSP00000356150.3:n.-36+2641G>C | |
| ENST00000367183.7:c.-36+2641G>C | ENSP00000356151.3:n.-36+2641G>C | |
| ENST00000391947.6:c.-36+2641G>C | ENSP00000375811.2:n.-36+2641G>C | |
| ENST00000454264.6:c.-36+2641G>C | ENSP00000396840.2:n.-36+2641G>C | |
| ENST00000463049.5:n.104+2641G>C | ||
| ENST00000470797.5:n.127+2641G>C | ||
| ENST00000470908.5:n.59+2641G>C | ||
| ENST00000471783.1:n.38+2641G>C | ||
| ENST00000612738.4:c.-36+2641G>C | ENSP00000478080.1:n.-36+2641G>C | |
| ENST00000614459.4:c.-36+2641G>C | ENSP00000482388.1:n.-36+2641G>C | |
| ENST00000616250.4:c.-36+2641G>C | ENSP00000478581.1:n.-36+2641G>C | |
| ENST00000621032.4:c.-36+2641G>C | ENSP00000482479.1:n.-36+2641G>C | |
| NM_001204171.1:c.-36+2641G>C | NP_001191100.1:n.-36+2641G>C | |
| NM_001204172.1:c.-36+2641G>C | NP_001191101.1:n.-36+2641G>C | |
| NM_001278516.1:c.-36+2641G>C | NP_001265445.1:n.-36+2641G>C | |
| NM_001278517.1:c.-36+2641G>C | NP_001265446.1:n.-36+2641G>C | |
| NM_001278518.1:c.-36+2641G>C | NP_001265447.1:n.-36+2641G>C | |
| NM_001278519.1:c.-36+2641G>C | NP_001265448.1:n.-36+2641G>C | |
| NM_002393.4:c.-36+2641G>C | NP_002384.2:n.-36+2641G>C | |
| XM_006711328.1:c.-36+2641G>C | XP_006711391.1:n.-36+2641G>C | |
| XM_011509565.1:c.-36+2641G>C | XP_011507867.1:n.-36+2641G>C | |
| XM_011509566.1:c.-36+2641G>C | XP_011507868.1:n.-36+2641G>C | |
| XM_024447114.1:c.-36+2531G>C | XP_024302882.1:n.-36+2531G>C | |
| XM_024447115.1:c.-36+655G>C | XP_024302883.1:n.-36+655G>C | |
| XR_001737183.1:n.117+2641G>C | ||
| NM_002393.5:c.-36+2641G>C MANE Select | NP_002384.2:n.-36+2641G>C | |
| NM_001204171.2:c.-36+2641G>C | NP_001191100.1:n.-36+2641G>C | |
| NM_001204172.2:c.-36+2641G>C | NP_001191101.1:n.-36+2641G>C | |
| NM_001278516.2:c.-36+2641G>C | NP_001265445.1:n.-36+2641G>C | |
| NM_001278517.2:c.-36+2641G>C | NP_001265446.1:n.-36+2641G>C | |
| NM_001278518.2:c.-36+2641G>C | NP_001265447.1:n.-36+2641G>C | |
| NM_001278519.2:c.-36+2641G>C | NP_001265448.1:n.-36+2641G>C |