Linked Data
gnomAD v4:
X-43949578-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949578A>C , CM000685.2:g.43949578A>C | GRCh38 |
| NC_000023.10:g.43808824A>C , CM000685.1:g.43808824A>C | GRCh37 |
| NC_000023.9:g.43693768A>C | NCBI36 |
| NG_009832.1:g.29098T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.*221T>G MANE Select | ENSP00000495972.1:n.*221T>G | |
| ENST00000647044.1:c.*221T>G | ENSP00000495811.1:n.*221T>G | |
| ENST00000378062.5:c.*221T>G | ENSP00000367301.5:n.*221T>G | |
| NM_000266.3:c.*221T>G | NP_000257.1:n.*221T>G | |
| NM_000266.4:c.*221T>G MANE Select | NP_000257.1:n.*221T>G |