Linked Data
dbSNP Id:
rs772038392
ExAC:
15:74632059 C / T
gnomAD v2:
15-74632059-C-T
gnomAD v3:
15-74339718-C-T
gnomAD v4:
15-74339718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339718C>T , CM000677.2:g.74339718C>T | GRCh38 |
| NC_000015.9:g.74632059C>T , CM000677.1:g.74632059C>T | GRCh37 |
| NC_000015.8:g.72419112C>T | NCBI36 |
| NG_007973.1:g.33024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1026G>A MANE Select | ENSP00000268053.6:p.Met342Ile | |
| ENST00000268053.10:c.1026G>A | ENSP00000268053.6:p.Met342Ile | |
| ENST00000358632.8:c.552G>A | ENSP00000351455.4:p.Met184Ile | |
| ENST00000435365.5:c.1026G>A | ENSP00000391081.1:p.Met342Ile | |
| ENST00000566674.5:c.552G>A | ENSP00000456941.1:p.Met184Ile | |
| NM_000781.2:c.1026G>A | NP_000772.2:p.Met342Ile | |
| NM_001099773.1:c.552G>A | NP_001093243.1:p.Met184Ile | |
| NM_000781.3:c.1026G>A MANE Select | NP_000772.2:p.Met342Ile | |
| NM_001099773.2:c.552G>A | NP_001093243.1:p.Met184Ile |