Linked Data
gnomAD v3:
6-31271140-C-G
gnomAD v4:
6-31271140-C-G
MyVariant Identifiers:
chr6:g.31238917C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271140C>G , CM000668.2:g.31271140C>G | GRCh38 |
| NC_000006.11:g.31238917C>G , CM000668.1:g.31238917C>G | GRCh37 |
| NC_000006.10:g.31346896C>G | NCBI36 |
| NG_029422.2:g.5992G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.552G>C MANE Select | ENSP00000365402.5:p.Leu184= | |
| ENST00000376228.9:c.552G>C | ENSP00000365402.5:p.Leu184= | |
| ENST00000376237.8:c.*139G>C | ENSP00000365412.4:n.*139G>C | |
| ENST00000383329.7:c.552G>C | ENSP00000372819.3:p.Leu184= | |
| ENST00000415537.1:c.550G>C | ||
| ENST00000484378.1:n.821G>C | ||
| ENST00000487245.5:n.911G>C | ||
| ENST00000495835.1:n.741G>C | ||
| NM_002117.5:c.552G>C | NP_002108.4:p.Leu184= | |
| NM_002117.6:c.552G>C MANE Select | NP_002108.4:p.Leu184= |