Linked Data
gnomAD v4:
4-41746027-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746027G>C , CM000666.2:g.41746027G>C | GRCh38 |
| NC_000004.11:g.41748044G>C , CM000666.1:g.41748044G>C | GRCh37 |
| NC_000004.10:g.41442801G>C | NCBI36 |
| NG_008243.1:g.7944C>G , LRG_513:g.7944C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.725C>G MANE Select | ENSP00000226382.2:p.Ala242Gly | |
| ENST00000226382.3:c.725C>G | ENSP00000226382.2:p.Ala242Gly | |
| NM_003924.3:c.725C>G , LRG_513t1:c.725C>G | NP_003915.2:p.Ala242Gly | |
| NM_003924.4:c.725C>G MANE Select | NP_003915.2:p.Ala242Gly |