Linked Data
gnomAD v4:
14-50130408-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130408G>C , CM000676.2:g.50130408G>C | GRCh38 |
| NC_000014.8:g.50597126G>C , CM000676.1:g.50597126G>C | GRCh37 |
| NC_000014.7:g.49666876G>C | NCBI36 |
| NG_051073.1:g.106286C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3337+93C>G MANE Select | ENSP00000216373.5:n.3337+93C>G | |
| ENST00000216373.9:c.3337+93C>G | ENSP00000216373.5:n.3337+93C>G | |
| ENST00000543680.5:c.3238+93C>G | ENSP00000445328.1:n.3238+93C>G | |
| NM_006939.2:c.3337+93C>G | NP_008870.2:n.3337+93C>G | |
| XM_005268021.1:c.3157+93C>G | XP_005268078.1:n.3157+93C>G | |
| XM_011537103.1:c.3298+93C>G | XP_011535405.1:n.3298+93C>G | |
| NM_006939.3:c.3337+93C>G | NP_008870.2:n.3337+93C>G | |
| NM_006939.4:c.3337+93C>G MANE Select | NP_008870.2:n.3337+93C>G |