Linked Data
dbSNP Id:
rs565550407
ExAC:
19:15290889 C / A
gnomAD v2:
19-15290889-C-A
gnomAD v3:
19-15180078-C-A
gnomAD v4:
19-15180078-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180078C>A , CM000681.2:g.15180078C>A | GRCh38 |
| NC_000019.9:g.15290889C>A , CM000681.1:g.15290889C>A | GRCh37 |
| NC_000019.8:g.15151889C>A | NCBI36 |
| NG_009819.1:g.25904G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3321G>T MANE Select | ENSP00000263388.1:p.Met1107Ile | |
| ENST00000263388.6:c.3321G>T | ENSP00000263388.1:p.Met1107Ile | |
| ENST00000601011.1:c.3162G>T | ENSP00000473138.1:p.Met1054Ile | |
| NM_000435.2:c.3321G>T | NP_000426.2:p.Met1107Ile | |
| XM_005259924.3:c.3165G>T | XP_005259981.1:p.Met1055Ile | |
| XM_005259924.4:c.3165G>T | XP_005259981.1:p.Met1055Ile | |
| NM_000435.3:c.3321G>T MANE Select | NP_000426.2:p.Met1107Ile |