Linked Data
dbSNP Id:
rs1324463494
gnomAD v2:
18-20572982-A-T
gnomAD v3:
18-22993019-A-T
gnomAD v4:
18-22993019-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22993019A>T , CM000680.2:g.22993019A>T | GRCh38 |
| NC_000018.9:g.20572982A>T , CM000680.1:g.20572982A>T | GRCh37 |
| NC_000018.8:g.18826980A>T | NCBI36 |
| NG_012121.1:g.64688A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327155.10:c.1192A>T MANE Select | ENSP00000323050.5:p.Ile398Phe | |
| ENST00000327155.9:c.1192A>T | ENSP00000323050.5:p.Ile398Phe | |
| ENST00000360790.9:c.1192A>T | ENSP00000354024.5:p.Ile398Phe | |
| ENST00000399721.6:c.1192A>T | ENSP00000382627.2:p.Ile398Phe | |
| ENST00000399722.6:c.1192A>T | ENSP00000382628.2:p.Ile398Phe | |
| ENST00000399725.6:c.1192A>T | ENSP00000382630.2:p.Ile398Phe | |
| NM_002894.2:c.1192A>T | NP_002885.1:p.Ile398Phe | |
| NM_203291.1:c.1192A>T | NP_976036.1:p.Ile398Phe | |
| NM_203292.1:c.1192A>T | NP_976037.1:p.Ile398Phe | |
| XM_005258325.1:c.1192A>T | XP_005258382.1:p.Ile398Phe | |
| XM_005258326.2:c.370A>T | XP_005258383.1:p.Ile124Phe | |
| XM_006722519.1:c.1192A>T | XP_006722582.1:p.Ile398Phe | |
| XM_006722520.1:c.1192A>T | XP_006722583.1:p.Ile398Phe | |
| XM_006722521.1:c.1192A>T | XP_006722584.1:p.Ile398Phe | |
| XM_011526132.1:c.1192A>T | XP_011524434.1:p.Ile398Phe | |
| XM_005258325.3:c.1192A>T | XP_005258382.1:p.Ile398Phe | |
| XM_005258326.4:c.370A>T | XP_005258383.1:p.Ile124Phe | |
| XM_006722519.2:c.1192A>T | XP_006722582.1:p.Ile398Phe | |
| XM_006722520.2:c.1192A>T | XP_006722583.1:p.Ile398Phe | |
| XM_006722521.2:c.1192A>T | XP_006722584.1:p.Ile398Phe | |
| XM_011526132.2:c.1192A>T | XP_011524434.1:p.Ile398Phe | |
| XM_017025916.1:c.370A>T | XP_016881405.1:p.Ile124Phe | |
| XM_024451233.1:c.898A>T | XP_024307001.1:p.Ile300Phe | |
| NM_002894.3:c.1192A>T MANE Select | NP_002885.1:p.Ile398Phe | |
| NM_203291.2:c.1192A>T | NP_976036.1:p.Ile398Phe | |
| NM_203292.2:c.1192A>T | NP_976037.1:p.Ile398Phe |