Linked Data
dbSNP Id:
rs548664416
ExAC:
17:42452819 C / T
gnomAD v2:
17-42452819-C-T
gnomAD v3:
17-44375451-C-T
gnomAD v4:
17-44375451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375451C>T , CM000679.2:g.44375451C>T | GRCh38 |
| NC_000017.10:g.42452819C>T , CM000679.1:g.42452819C>T | GRCh37 |
| NC_000017.9:g.39808345C>T | NCBI36 |
| NG_008331.1:g.19055G>A , LRG_479:g.19055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2727+140G>A MANE Select | ENSP00000262407.5:n.2727+140G>A | |
| ENST00000648408.1:c.2158+140G>A | ||
| ENST00000262407.5:c.2727+140G>A | ENSP00000262407.5:n.2727+140G>A | |
| ENST00000587295.5:c.253+382G>A | ||
| ENST00000592462.5:n.1662G>A | ||
| NM_000419.3:c.2727+140G>A , LRG_479t1:c.2727+140G>A | NP_000410.2:n.2727+140G>A | |
| XM_011524749.1:c.2727+140G>A | XP_011523051.1:n.2727+140G>A | |
| XM_011524750.1:c.2727+140G>A | XP_011523052.1:n.2727+140G>A | |
| NM_000419.4:c.2727+140G>A | NP_000410.2:n.2727+140G>A | |
| NM_000419.5:c.2727+140G>A MANE Select | NP_000410.2:n.2727+140G>A |