Linked Data
dbSNP Id:
rs372198109
ExAC:
17:42451985 G / A
gnomAD v2:
17-42451985-G-A
gnomAD v3:
17-44374617-G-A
gnomAD v4:
17-44374617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374617G>A , CM000679.2:g.44374617G>A | GRCh38 |
| NC_000017.10:g.42451985G>A , CM000679.1:g.42451985G>A | GRCh37 |
| NC_000017.9:g.39807511G>A | NCBI36 |
| NG_008331.1:g.19889C>T , LRG_479:g.19889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2943+42C>T MANE Select | ENSP00000262407.5:n.2943+42C>T | |
| ENST00000648408.1:c.2374+42C>T | ||
| ENST00000262407.5:c.2943+42C>T | ENSP00000262407.5:n.2943+42C>T | |
| ENST00000587295.5:c.253+1216C>T | ||
| ENST00000588098.1:c.37+42C>T | ||
| ENST00000592462.5:n.2496C>T | ||
| NM_000419.3:c.2943+42C>T , LRG_479t1:c.2943+42C>T | NP_000410.2:n.2943+42C>T | |
| XM_011524749.1:c.2842-147C>T | XP_011523051.1:n.2842-147C>T | |
| XM_011524750.1:c.2943+42C>T | XP_011523052.1:n.2943+42C>T | |
| NM_000419.4:c.2943+42C>T | NP_000410.2:n.2943+42C>T | |
| NM_000419.5:c.2943+42C>T MANE Select | NP_000410.2:n.2943+42C>T |