Linked Data
gnomAD v4:
2-202377248-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377248G>T , CM000664.2:g.202377248G>T | GRCh38 |
| NC_000002.11:g.203241971G>T , CM000664.1:g.203241971G>T | GRCh37 |
| NC_000002.10:g.202950216G>T | NCBI36 |
| NG_009363.1:g.5922G>T , LRG_712:g.5922G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-227G>T MANE Select | ENSP00000363708.4:n.-227G>T | |
| ENST00000374580.8:c.-227G>T | ENSP00000363708.4:n.-227G>T | |
| NM_001204.6:c.-227G>T , LRG_712t1:c.-227G>T | NP_001195.2:n.-227G>T | |
| XM_011511687.1:c.-227G>T | XP_011509989.1:n.-227G>T | |
| XM_011511688.1:c.-227G>T | XP_011509990.1:n.-227G>T | |
| NM_001204.7:c.-227G>T MANE Select | NP_001195.2:n.-227G>T |