Linked Data
dbSNP Id:
rs755763693
ExAC:
17:48263205 G / T
gnomAD v2:
17-48263205-G-T
gnomAD v3:
17-50185844-G-T
gnomAD v4:
17-50185844-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185844G>T , CM000679.2:g.50185844G>T | GRCh38 |
| NC_000017.10:g.48263205G>T , CM000679.1:g.48263205G>T | GRCh37 |
| NC_000017.9:g.45618204G>T | NCBI36 |
| NG_007400.1:g.20796C>A , LRG_1:g.20796C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4182C>A MANE Select | ENSP00000225964.6:p.Asn1394Lys | |
| ENST00000225964.9:c.4182C>A | ENSP00000225964.5:p.Asn1394Lys | |
| ENST00000510710.3:n.1147C>A | ||
| NM_000088.3:c.4182C>A , LRG_1t1:c.4182C>A | NP_000079.2:p.Asn1394Lys | |
| XM_005257058.3:c.3912C>A | XP_005257115.2:p.Asn1304Lys | |
| XM_005257059.3:c.3264C>A | XP_005257116.2:p.Asn1088Lys | |
| XM_011524341.1:c.3984C>A | XP_011522643.1:p.Asn1328Lys | |
| XM_005257058.4:c.3912C>A | XP_005257115.2:p.Asn1304Lys | |
| XM_005257059.4:c.3264C>A | XP_005257116.2:p.Asn1088Lys | |
| NM_000088.4:c.4182C>A MANE Select | NP_000079.2:p.Asn1394Lys |