Linked Data
dbSNP Id:
rs2013109
gnomAD v2:
14-21423790-G-C
gnomAD v3:
14-20955631-G-C
gnomAD v4:
14-20955631-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20955631G>C , CM000676.2:g.20955631G>C | GRCh38 |
| NC_000014.8:g.21423790G>C , CM000676.1:g.21423790G>C | GRCh37 |
| NC_000014.7:g.20493630G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304625.3:c.-6+95G>C MANE Select | ENSP00000303276.2:n.-6+95G>C | |
| ENST00000304625.2:c.-6+95G>C | ENSP00000303276.2:n.-6+95G>C | |
| NM_002934.2:c.-6+95G>C | NP_002925.1:n.-6+95G>C | |
| NM_002934.3:c.-6+95G>C MANE Select | NP_002925.1:n.-6+95G>C |