Linked Data
dbSNP Id:
rs1294053098
gnomAD v2:
10-95553079-G-T
gnomAD v3:
10-93793322-G-T
gnomAD v4:
10-93793322-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793322G>T , CM000672.2:g.93793322G>T | GRCh38 |
| NC_000010.10:g.95553079G>T , CM000672.1:g.95553079G>T | GRCh37 |
| NC_000010.9:g.95543069G>T | NCBI36 |
| NG_011832.1:g.40514G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.810G>T MANE Select | ENSP00000360472.4:p.Lys270Asn | |
| ENST00000485458.3:n.4786G>T | ||
| ENST00000635953.1:c.810G>T | ENSP00000490058.1:p.Lys270Asn | |
| ENST00000636155.1:c.810G>T | ENSP00000490355.1:p.Lys270Asn | |
| ENST00000636232.1:c.*596G>T | ENSP00000490325.1:n.*596G>T | |
| ENST00000636754.1:c.*652G>T | ENSP00000489781.1:n.*652G>T | |
| ENST00000636946.1:c.*979G>T | ENSP00000490654.1:n.*979G>T | |
| ENST00000637037.1:c.*400G>T | ENSP00000490860.1:n.*400G>T | |
| ENST00000637347.1:n.671G>T | ||
| ENST00000637611.1:c.*366G>T | ENSP00000489682.1:n.*366G>T | |
| ENST00000637689.1:c.-562G>T | ENSP00000490496.1:n.-562G>T | |
| ENST00000637925.1:c.*405G>T | ENSP00000489763.1:n.*405G>T | |
| ENST00000638049.1:c.*568G>T | ENSP00000490597.1:n.*568G>T | |
| ENST00000676175.1:n.2549G>T | ||
| ENST00000371413.4:c.810G>T | ENSP00000360467.3:p.Lys270Asn | |
| ENST00000371418.8:c.810G>T | ENSP00000360472.4:p.Lys270Asn | |
| ENST00000626307.1:n.4725G>T | ||
| ENST00000626946.1:n.480G>T | ||
| ENST00000627420.2:c.*519G>T | ENSP00000487116.1:n.*519G>T | |
| ENST00000629035.2:c.738G>T | ENSP00000486908.1:p.Lys246Asn | |
| ENST00000630047.2:c.666G>T | ENSP00000485917.1:p.Lys222Asn | |
| ENST00000630487.2:c.*600G>T | ENSP00000486859.1:n.*600G>T | |
| NM_001308275.1:c.810G>T | NP_001295204.1:p.Lys270Asn | |
| NM_001308276.1:c.666G>T | NP_001295205.1:p.Lys222Asn | |
| NM_005097.2:c.810G>T | NP_005088.1:p.Lys270Asn | |
| NM_005097.3:c.810G>T | NP_005088.1:p.Lys270Asn | |
| NR_131777.1:n.1074G>T | ||
| XM_017016911.2:c.810G>T | XP_016872400.1:p.Lys270Asn | |
| XM_017016912.2:c.666G>T | XP_016872401.1:p.Lys222Asn | |
| NM_005097.4:c.810G>T MANE Select | NP_005088.1:p.Lys270Asn | |
| NM_001308275.2:c.810G>T | NP_001295204.1:p.Lys270Asn | |
| NM_001308276.2:c.666G>T | NP_001295205.1:p.Lys222Asn | |
| NR_131777.2:n.947G>T |