Linked Data
dbSNP Id:
rs1062484
gnomAD v2:
17-48167362-C-T
gnomAD v3:
17-50089998-C-T
gnomAD v4:
17-50089998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50089998C>T , CM000679.2:g.50089998C>T | GRCh38 |
| NC_000017.10:g.48167362C>T , CM000679.1:g.48167362C>T | GRCh37 |
| NC_000017.9:g.45522361C>T | NCBI36 |
| NG_029107.2:g.39023C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320031.13:c.*920C>T MANE Select | ENSP00000315190.8:n.*920C>T | |
| ENST00000320031.12:c.*920C>T | ENSP00000315190.8:n.*920C>T | |
| ENST00000505306.5:n.4997C>T | ||
| ENST00000506437.1:n.2572C>T | ||
| ENST00000506827.1:c.536-192C>T | ||
| NM_002204.2:c.*920C>T | NP_002195.1:n.*920C>T | |
| NM_002204.3:c.*920C>T | NP_002195.1:n.*920C>T | |
| NM_005501.2:c.*733C>T | NP_005492.1:n.*733C>T | |
| XM_005257308.1:c.*920C>T | XP_005257365.1:n.*920C>T | |
| XM_005257308.2:c.*920C>T | XP_005257365.1:n.*920C>T | |
| NM_002204.4:c.*920C>T MANE Select | NP_002195.1:n.*920C>T |