Linked Data
dbSNP Id:
rs750954783
ExAC:
17:48263255 C / T
gnomAD v2:
17-48263255-C-T
gnomAD v4:
17-50185894-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185894C>T , CM000679.2:g.50185894C>T | GRCh38 |
| NC_000017.10:g.48263255C>T , CM000679.1:g.48263255C>T | GRCh37 |
| NC_000017.9:g.45618254C>T | NCBI36 |
| NG_007400.1:g.20746G>A , LRG_1:g.20746G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4132G>A MANE Select | ENSP00000225964.6:p.Asp1378Asn | |
| ENST00000225964.9:c.4132G>A | ENSP00000225964.5:p.Asp1378Asn | |
| ENST00000510710.3:n.1097G>A | ||
| NM_000088.3:c.4132G>A , LRG_1t1:c.4132G>A | NP_000079.2:p.Asp1378Asn | |
| XM_005257058.3:c.3862G>A | XP_005257115.2:p.Asp1288Asn | |
| XM_005257059.3:c.3214G>A | XP_005257116.2:p.Asp1072Asn | |
| XM_011524341.1:c.3934G>A | XP_011522643.1:p.Asp1312Asn | |
| XM_005257058.4:c.3862G>A | XP_005257115.2:p.Asp1288Asn | |
| XM_005257059.4:c.3214G>A | XP_005257116.2:p.Asp1072Asn | |
| NM_000088.4:c.4132G>A MANE Select | NP_000079.2:p.Asp1378Asn |