Linked Data
gnomAD v4:
13-23862319-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23862319G>C , CM000675.2:g.23862319G>C | GRCh38 |
| NC_000013.10:g.24436458G>C , CM000675.1:g.24436458G>C | GRCh37 |
| NC_000013.9:g.23334458G>C | NCBI36 |
| NG_052977.1:g.32130C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1036C>G MANE Select | ENSP00000371607.3:p.Leu346Val | |
| ENST00000382172.3:c.1036C>G | ENSP00000371607.3:p.Leu346Val | |
| ENST00000494139.1:n.433C>G | ||
| NM_005932.3:c.1036C>G | NP_005923.2:p.Leu346Val | |
| XM_011535097.1:c.850C>G | XP_011533399.1:p.Leu284Val | |
| XM_011535098.1:c.1036C>G | XP_011533400.1:p.Leu346Val | |
| XM_011535097.2:c.850C>G | XP_011533399.1:p.Leu284Val | |
| XM_011535098.3:c.1036C>G | XP_011533400.1:p.Leu346Val | |
| NM_005932.4:c.1036C>G MANE Select | NP_005923.3:p.Leu346Val |