Linked Data
gnomAD v4:
X-8731871-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731871G>C , CM000685.2:g.8731871G>C | GRCh38 |
| NC_000023.10:g.8699912G>C , CM000685.1:g.8699912G>C | GRCh37 |
| NC_000023.9:g.8659912G>C | NCBI36 |
| NG_007088.1:g.5316C>G | |
| NG_007088.2:g.5316C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.166C>G MANE Select | ENSP00000262648.3:p.Leu56Val | |
| ENST00000262648.7:c.166C>G | ENSP00000262648.3:p.Leu56Val | |
| ENST00000619786.1:c.163C>G | ENSP00000478734.1:p.Leu55Val | |
| NM_000216.2:c.166C>G | NP_000207.2:p.Leu56Val | |
| XM_005274501.3:c.166C>G | XP_005274558.1:p.Leu56Val | |
| NM_000216.3:c.166C>G | NP_000207.2:p.Leu56Val | |
| XM_005274501.4:c.166C>G | XP_005274558.1:p.Leu56Val | |
| NM_000216.4:c.166C>G MANE Select | NP_000207.2:p.Leu56Val |