Linked Data
gnomAD v4:
11-2171806-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171806G>T , CM000673.2:g.2171806G>T | GRCh38 |
| NC_000011.9:g.2193036G>T , CM000673.1:g.2193036G>T | GRCh37 |
| NC_000011.8:g.2149612G>T | NCBI36 |
| NG_008128.1:g.5000C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.-20C>A MANE Select | ENSP00000325951.4:n.-20C>A | |
| ENST00000352909.7:c.-20C>A | ENSP00000325951.3:n.-20C>A | |
| XM_011520335.1:c.-20C>A | XP_011518637.1:n.-20C>A | |
| XM_011520335.2:c.-20C>A | XP_011518637.1:n.-20C>A | |
| NM_000360.4:c.-20C>A MANE Select | NP_000351.2:n.-20C>A | |
| NM_199292.3:c.-20C>A | NP_954986.2:n.-20C>A | |
| NM_199293.3:c.-20C>A | NP_954987.2:n.-20C>A |