Linked Data
gnomAD v4:
1-94021131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021131A>G , CM000663.2:g.94021131A>G | GRCh38 |
| NC_000001.10:g.94486687A>G , CM000663.1:g.94486687A>G | GRCh37 |
| NC_000001.9:g.94259275A>G | NCBI36 |
| NG_009073.1:g.105019T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5018+109T>C MANE Select | ENSP00000359245.3:n.5018+109T>C | |
| ENST00000370225.3:c.5018+109T>C | ENSP00000359245.3:n.5018+109T>C | |
| ENST00000460514.1:n.512+109T>C | ||
| ENST00000470771.1:n.128+109T>C | ||
| ENST00000536513.5:c.1394+109T>C | ENSP00000439707.2:n.1394+109T>C | |
| NM_000350.2:c.5018+109T>C | NP_000341.2:n.5018+109T>C | |
| NM_000350.3:c.5018+109T>C MANE Select | NP_000341.2:n.5018+109T>C |