Linked Data
dbSNP Id:
rs755010190
ExAC:
6:31238917 C / T
gnomAD v2:
6-31238917-C-T
gnomAD v3:
6-31271140-C-T
gnomAD v4:
6-31271140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271140C>T , CM000668.2:g.31271140C>T | GRCh38 |
| NC_000006.11:g.31238917C>T , CM000668.1:g.31238917C>T | GRCh37 |
| NC_000006.10:g.31346896C>T | NCBI36 |
| NG_029422.2:g.5992G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.552G>A MANE Select | ENSP00000365402.5:p.Leu184= | |
| ENST00000376228.9:c.552G>A | ENSP00000365402.5:p.Leu184= | |
| ENST00000376237.8:c.*139G>A | ENSP00000365412.4:n.*139G>A | |
| ENST00000383329.7:c.552G>A | ENSP00000372819.3:p.Leu184= | |
| ENST00000415537.1:c.550G>A | ||
| ENST00000484378.1:n.821G>A | ||
| ENST00000487245.5:n.911G>A | ||
| ENST00000495835.1:n.741G>A | ||
| NM_002117.5:c.552G>A | NP_002108.4:p.Leu184= | |
| NM_002117.6:c.552G>A MANE Select | NP_002108.4:p.Leu184= |