Linked Data
dbSNP Id:
rs763870767
gnomAD v2:
3-49168254-G-A
gnomAD v3:
3-49130821-G-A
gnomAD v4:
3-49130821-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49130821G>A , CM000665.2:g.49130821G>A | GRCh38 |
| NC_000003.11:g.49168254G>A , CM000665.1:g.49168254G>A | GRCh37 |
| NC_000003.10:g.49143258G>A | NCBI36 |
| NG_008094.1:g.7346C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.955C>T MANE Select | ENSP00000307156.4:p.Leu319Phe | |
| ENST00000305544.8:c.955C>T | ENSP00000307156.4:p.Leu319Phe | |
| ENST00000418109.5:c.955C>T | ENSP00000388325.1:p.Leu319Phe | |
| NM_002292.3:c.955C>T | NP_002283.3:p.Leu319Phe | |
| XM_005265127.3:c.955C>T | XP_005265184.1:p.Leu319Phe | |
| XM_005265127.4:c.955C>T | XP_005265184.1:p.Leu319Phe | |
| NM_002292.4:c.955C>T MANE Select | NP_002283.3:p.Leu319Phe |