Linked Data
ClinVar Variation Id:
1665197
ClinVar RCV Id:
RCV002193600
dbSNP Id:
rs553896639
ExAC:
9:77416864 C / A
gnomAD v2:
9-77416864-C-A
gnomAD v3:
9-74801948-C-A
gnomAD v4:
9-74801948-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74801948C>A , CM000671.2:g.74801948C>A | GRCh38 |
| NC_000009.11:g.77416864C>A , CM000671.1:g.77416864C>A | GRCh37 |
| NC_000009.10:g.76606684C>A | NCBI36 |
| NG_017036.1:g.91147G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360774.6:c.1959G>T MANE Select | ENSP00000354006.1:p.Lys653Asn | |
| ENST00000360774.5:c.1959G>T | ENSP00000354006.1:p.Lys653Asn | |
| ENST00000361255.7:c.1944G>T | ENSP00000354962.3:p.Lys648Asn | |
| ENST00000449912.6:c.1944G>T | ENSP00000396672.2:p.Lys648Asn | |
| NM_001177310.1:c.1944G>T | NP_001170781.1:p.Lys648Asn | |
| NM_001177311.1:c.1944G>T | NP_001170782.1:p.Lys648Asn | |
| NM_017662.4:c.1959G>T | NP_060132.3:p.Lys653Asn | |
| XM_011518244.1:c.1959G>T | XP_011516546.1:p.Lys653Asn | |
| XM_011518245.1:c.1866G>T | XP_011516547.1:p.Lys622Asn | |
| XM_011518246.1:c.1959G>T | XP_011516548.1:p.Lys653Asn | |
| XM_011518247.1:c.1959G>T | XP_011516549.1:p.Lys653Asn | |
| XM_011518248.1:c.1818G>T | XP_011516550.1:p.Lys606Asn | |
| XM_011518249.1:c.1725G>T | XP_011516551.1:p.Lys575Asn | |
| XM_011518250.1:c.1959G>T | XP_011516552.1:p.Lys653Asn | |
| XM_011518251.1:c.1230G>T | XP_011516553.1:p.Lys410Asn | |
| XM_011518252.1:c.1959G>T | XP_011516554.1:p.Lys653Asn | |
| XM_011518253.1:c.-105G>T | XP_011516555.1:n.-105G>T | |
| XM_011518254.1:c.1959G>T | XP_011516556.1:p.Lys653Asn | |
| XM_011518255.1:c.1959G>T | XP_011516557.1:p.Lys653Asn | |
| XR_929716.1:n.2197G>T | ||
| XR_929717.1:n.2197G>T | ||
| XR_929718.1:n.2197G>T | ||
| XM_011518251.2:c.1230G>T | XP_011516553.1:p.Lys410Asn | |
| XM_011518252.2:c.1959G>T | XP_011516554.1:p.Lys653Asn | |
| XM_011518255.2:c.1959G>T | XP_011516557.1:p.Lys653Asn | |
| XM_017014287.1:c.1725G>T | XP_016869776.1:p.Lys575Asn | |
| XM_017014288.1:c.1725G>T | XP_016869777.1:p.Lys575Asn | |
| XM_017014289.1:c.1959G>T | XP_016869778.1:p.Lys653Asn | |
| XR_001746185.1:n.2197G>T | ||
| XR_929717.2:n.2197G>T | ||
| NM_017662.5:c.1959G>T MANE Select | NP_060132.3:p.Lys653Asn | |
| NM_001177310.2:c.1944G>T | NP_001170781.1:p.Lys648Asn | |
| NM_001177311.2:c.1944G>T | NP_001170782.1:p.Lys648Asn |