Linked Data
ClinVar Variation Id:
1445577
ClinVar RCV Id:
RCV001958295
dbSNP Id:
rs376248199
ExAC:
19:18171958 C / T
gnomAD v2:
19-18171958-C-T
gnomAD v3:
19-18061148-C-T
gnomAD v4:
19-18061148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18061148C>T , CM000681.2:g.18061148C>T | GRCh38 |
| NC_000019.9:g.18171958C>T , CM000681.1:g.18171958C>T | GRCh37 |
| NC_000019.8:g.18032958C>T | NCBI36 |
| NG_007366.2:g.42802G>A , LRG_72:g.42802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1765G>A MANE Select | ENSP00000472165.2:p.Ala589Thr | |
| ENST00000593993.6:c.1765G>A | ENSP00000472165.2:p.Ala589Thr | |
| ENST00000600835.6:c.1765G>A | ENSP00000470788.1:p.Ala589Thr | |
| NM_001290023.1:c.1765G>A | NP_001276952.1:p.Ala589Thr | |
| NM_001290024.1:c.1885G>A | NP_001276953.1:p.Ala629Thr | |
| NM_005535.2:c.1765G>A | NP_005526.1:p.Ala589Thr | |
| XM_006722741.2:c.1885G>A | XP_006722804.2:p.Ala629Thr | |
| XM_011527966.1:c.1918G>A | XP_011526268.1:p.Ala640Thr | |
| XM_011527967.1:c.1906G>A | XP_011526269.1:p.Ala636Thr | |
| XM_011527968.1:c.1897G>A | XP_011526270.1:p.Ala633Thr | |
| XM_011527969.1:c.1885G>A | XP_011526271.1:p.Ala629Thr | |
| XM_011527970.1:c.1918G>A | XP_011526272.1:p.Ala640Thr | |
| XM_011527971.1:c.1918G>A | XP_011526273.1:p.Ala640Thr | |
| XM_011527972.1:c.1918G>A | XP_011526274.1:p.Ala640Thr | |
| XM_011527973.1:c.1798G>A | XP_011526275.1:p.Ala600Thr | |
| XM_011527974.1:c.1786G>A | XP_011526276.1:p.Ala596Thr | |
| XM_011527975.1:c.1885G>A | XP_011526277.1:p.Ala629Thr | |
| XM_006722741.3:c.1885G>A | XP_006722804.2:p.Ala629Thr | |
| XM_011527966.2:c.1918G>A | XP_011526268.1:p.Ala640Thr | |
| XM_011527967.2:c.1906G>A | XP_011526269.1:p.Ala636Thr | |
| XM_011527968.3:c.1897G>A | XP_011526270.1:p.Ala633Thr | |
| XM_011527969.2:c.1885G>A | XP_011526271.1:p.Ala629Thr | |
| XM_011527970.2:c.1918G>A | XP_011526272.1:p.Ala640Thr | |
| XM_011527971.3:c.1918G>A | XP_011526273.1:p.Ala640Thr | |
| XM_011527972.3:c.1918G>A | XP_011526274.1:p.Ala640Thr | |
| XM_011527973.2:c.1798G>A | XP_011526275.1:p.Ala600Thr | |
| XM_011527974.2:c.1786G>A | XP_011526276.1:p.Ala596Thr | |
| XM_011527975.2:c.1885G>A | XP_011526277.1:p.Ala629Thr | |
| XM_017026762.1:c.1183G>A | XP_016882251.1:p.Ala395Thr | |
| NM_001290023.2:c.1765G>A | NP_001276952.1:p.Ala589Thr | |
| NM_005535.3:c.1765G>A MANE Select | NP_005526.1:p.Ala589Thr |