Linked Data
gnomAD v4:
2-113117868-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117868A>C , CM000664.2:g.113117868A>C | GRCh38 |
| NC_000002.11:g.113875445A>C , CM000664.1:g.113875445A>C | GRCh37 |
| NC_000002.10:g.113591916A>C | NCBI36 |
| NG_021240.1:g.4976A>C , LRG_188:g.4976A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2198A>C | ENSP00000387210.1:n.-272-2198A>C | |
| ENST00000465812.6:n.775+203A>C | ||
| ENST00000409052.5:c.-272-2198A>C | ENSP00000387210.1:n.-272-2198A>C | |
| XM_011511121.1:c.-272-2198A>C | XP_011509423.1:n.-272-2198A>C |