Linked Data
dbSNP Id:
rs1435034216
gnomAD v2:
7-92129112-G-A
gnomAD v3:
7-92499798-G-A
gnomAD v4:
7-92499798-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499798G>A , CM000669.2:g.92499798G>A | GRCh38 |
| NC_000007.13:g.92129112G>A , CM000669.1:g.92129112G>A | GRCh37 |
| NC_000007.12:g.91967048G>A | NCBI36 |
| NG_008341.1:g.33734C>T | |
| NG_008341.2:g.33734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2624C>T MANE Select | ENSP00000248633.4:p.Thr875Ile | |
| ENST00000248633.8:c.2624C>T | ENSP00000248633.4:p.Thr875Ile | |
| ENST00000428214.5:c.2453C>T | ENSP00000394413.1:p.Thr818Ile | |
| ENST00000438045.5:c.1658C>T | ENSP00000410438.1:p.Thr553Ile | |
| ENST00000484913.5:n.2663C>T | ||
| ENST00000496420.5:n.2516C>T | ||
| NM_000466.2:c.2624C>T | NP_000457.1:p.Thr875Ile | |
| NM_001282677.1:c.2453C>T | NP_001269606.1:p.Thr818Ile | |
| NM_001282678.1:c.2000C>T | NP_001269607.1:p.Thr667Ile | |
| XM_005250433.3:c.875C>T | XP_005250490.1:p.Thr292Ile | |
| XR_242246.3:n.2720C>T | ||
| XM_017012319.2:c.875C>T | XP_016867808.1:p.Thr292Ile | |
| XR_001744808.2:n.1651C>T | ||
| XR_242246.5:n.2671C>T | ||
| NM_000466.3:c.2624C>T MANE Select | NP_000457.1:p.Thr875Ile | |
| NM_001282677.2:c.2453C>T | NP_001269606.1:p.Thr818Ile | |
| NM_001282678.2:c.2000C>T | NP_001269607.1:p.Thr667Ile |