Linked Data
dbSNP Id:
rs41540416
ExAC:
6:31237762 C / T
gnomAD v2:
6-31237762-C-T
gnomAD v3:
6-31269985-C-T
gnomAD v4:
6-31269985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269985C>T , CM000668.2:g.31269985C>T | GRCh38 |
| NC_000006.11:g.31237762C>T , CM000668.1:g.31237762C>T | GRCh37 |
| NC_000006.10:g.31345741C>T | NCBI36 |
| NG_029422.2:g.7147G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.996G>A MANE Select | ENSP00000365402.5:p.Met332Ile | |
| ENST00000376228.9:c.996G>A | ENSP00000365402.5:p.Met332Ile | |
| ENST00000376237.8:c.*583G>A | ENSP00000365412.4:n.*583G>A | |
| ENST00000383329.7:c.996G>A | ENSP00000372819.3:p.Met332Ile | |
| ENST00000470363.5:n.314G>A | ||
| ENST00000487245.5:n.1355G>A | ||
| NM_002117.5:c.996G>A | NP_002108.4:p.Met332Ile | |
| NM_002117.6:c.996G>A MANE Select | NP_002108.4:p.Met332Ile |