Linked Data
dbSNP Id:
rs747521549
ExAC:
2:150426519 C / A
gnomAD v2:
2-150426519-C-A
gnomAD v4:
2-149570005-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570005C>A , CM000664.2:g.149570005C>A | GRCh38 |
| NC_000002.11:g.150426519C>A , CM000664.1:g.150426519C>A | GRCh37 |
| NC_000002.10:g.150134765C>A | NCBI36 |
| NG_009189.1:g.22812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.860G>T MANE Select | ENSP00000301920.5:p.Ser287Ile | |
| ENST00000303319.9:c.860G>T | ENSP00000301920.5:p.Ser287Ile | |
| ENST00000422782.2:c.962G>T | ENSP00000408331.2:p.Ser321Ile | |
| ENST00000428879.5:c.860G>T | ENSP00000389060.1:p.Ser287Ile | |
| NM_015702.2:c.860G>T | NP_056517.1:p.Ser287Ile | |
| NM_015702.3:c.860G>T MANE Select | NP_056517.1:p.Ser287Ile |