Linked Data
gnomAD v4:
5-55232927-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232927G>C , CM000667.2:g.55232927G>C | GRCh38 |
| NC_000005.9:g.54528755G>C , CM000667.1:g.54528755G>C | GRCh37 |
| NC_000005.8:g.54564512G>C | NCBI36 |
| NG_034201.1:g.5791C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+216C>G MANE Select | ENSP00000282572.4:n.381+216C>G | |
| ENST00000282572.4:c.381+216C>G | ENSP00000282572.4:n.381+216C>G | |
| ENST00000501463.2:c.*201C>G | ENSP00000422485.1:n.*201C>G | |
| NM_021147.4:c.381+216C>G | NP_066970.3:n.381+216C>G | |
| NR_125346.1:n.791C>G | ||
| NR_125347.1:n.580+211C>G | ||
| NR_125348.1:n.65C>G | ||
| NM_021147.5:c.381+216C>G MANE Select | NP_066970.3:n.381+216C>G | |
| NR_125346.2:n.682C>G | ||
| NR_125347.2:n.471+211C>G |