Linked Data
gnomAD v4:
2-202377297-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377297C>A , CM000664.2:g.202377297C>A | GRCh38 |
| NC_000002.11:g.203242020C>A , CM000664.1:g.203242020C>A | GRCh37 |
| NC_000002.10:g.202950265C>A | NCBI36 |
| NG_009363.1:g.5971C>A , LRG_712:g.5971C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-178C>A MANE Select | ENSP00000363708.4:n.-178C>A | |
| ENST00000374580.8:c.-178C>A | ENSP00000363708.4:n.-178C>A | |
| NM_001204.6:c.-178C>A , LRG_712t1:c.-178C>A | NP_001195.2:n.-178C>A | |
| XM_011511687.1:c.-178C>A | XP_011509989.1:n.-178C>A | |
| XM_011511688.1:c.-178C>A | XP_011509990.1:n.-178C>A | |
| NM_001204.7:c.-178C>A MANE Select | NP_001195.2:n.-178C>A |