Linked Data
gnomAD v4:
5-14741703-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14741703G>C , CM000667.2:g.14741703G>C | GRCh38 |
| NC_000005.9:g.14741812G>C , CM000667.1:g.14741812G>C | GRCh37 |
| NC_000005.8:g.14794812G>C | NCBI36 |
| NG_008273.1:g.135076C>G | |
| NG_008273.2:g.135083C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1011+124C>G MANE Select | ENSP00000284268.6:n.1011+124C>G | |
| ENST00000284268.6:c.1011+124C>G | ENSP00000284268.6:n.1011+124C>G | |
| ENST00000503939.5:n.523+124C>G | ||
| ENST00000515517.1:n.369C>G | ||
| NM_054027.4:c.1011+124C>G | NP_473368.1:n.1011+124C>G | |
| XM_011514067.1:c.1011+124C>G | XP_011512369.1:n.1011+124C>G | |
| NM_054027.5:c.1011+124C>G | NP_473368.1:n.1011+124C>G | |
| XM_017009644.2:c.927+124C>G | XP_016865133.1:n.927+124C>G | |
| NM_054027.6:c.1011+124C>G MANE Select | NP_473368.1:n.1011+124C>G |