Linked Data
gnomAD v4:
11-69648249-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648249G>C , CM000673.2:g.69648249G>C | GRCh38 |
| NC_000011.9:g.69463017G>C , CM000673.1:g.69463017G>C | GRCh37 |
| NC_000011.8:g.69172198G>C | NCBI36 |
| NG_007375.1:g.12145G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+107G>C MANE Select | ENSP00000227507.2:n.723+107G>C | |
| ENST00000227507.2:c.723+107G>C | ENSP00000227507.2:n.723+107G>C | |
| ENST00000542367.1:n.186+107G>C | ||
| NM_053056.2:c.723+107G>C | NP_444284.1:n.723+107G>C | |
| XM_006718653.2:c.747+107G>C | XP_006718716.1:n.747+107G>C | |
| NM_053056.3:c.723+107G>C MANE Select | NP_444284.1:n.723+107G>C |