Linked Data
ClinVar Variation Id:
3013667
ClinVar RCV Id:
RCV003873242
dbSNP Id:
rs749317822
ExAC:
17:48270197 T / A
gnomAD v2:
17-48270197-T-A
gnomAD v4:
17-50192836-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50192836T>A , CM000679.2:g.50192836T>A | GRCh38 |
| NC_000017.10:g.48270197T>A , CM000679.1:g.48270197T>A | GRCh37 |
| NC_000017.9:g.45625196T>A | NCBI36 |
| NG_007400.1:g.13804A>T , LRG_1:g.13804A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1836A>T MANE Select | ENSP00000225964.6:p.Lys612Asn | |
| ENST00000225964.9:c.1836A>T | ENSP00000225964.5:p.Lys612Asn | |
| ENST00000476387.1:n.185A>T | ||
| NM_000088.3:c.1836A>T , LRG_1t1:c.1836A>T | NP_000079.2:p.Lys612Asn | |
| XM_005257058.3:c.1836A>T | XP_005257115.2:p.Lys612Asn | |
| XM_005257059.3:c.958-143A>T | XP_005257116.2:n.958-143A>T | |
| XM_011524341.1:c.1638A>T | XP_011522643.1:p.Lys546Asn | |
| XM_005257058.4:c.1836A>T | XP_005257115.2:p.Lys612Asn | |
| XM_005257059.4:c.958-143A>T | XP_005257116.2:n.958-143A>T | |
| NM_000088.4:c.1836A>T MANE Select | NP_000079.2:p.Lys612Asn |