Linked Data
ClinVar Variation Id:
262259
dbSNP Id:
rs9513851
ExAC:
13:101747984 G / A
gnomAD v2:
13-101747984-G-A
gnomAD v3:
13-101095633-G-A
gnomAD v4:
13-101095633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101095633G>A , CM000675.2:g.101095633G>A | GRCh38 |
| NC_000013.10:g.101747984G>A , CM000675.1:g.101747984G>A | GRCh37 |
| NC_000013.9:g.100545985G>A | NCBI36 |
| NG_053176.1:g.326574C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.3210C>T MANE Select | ENSP00000251127.6:p.Asn1070= | |
| ENST00000648359.1:c.3210C>T | ENSP00000497465.1:p.Asn1070= | |
| ENST00000675150.1:c.2931C>T | ENSP00000502680.1:p.Asn977= | |
| ENST00000675332.1:c.3297C>T | ENSP00000501955.1:p.Asn1099= | |
| ENST00000676315.1:c.3123C>T | ENSP00000501603.1:p.Asn1041= | |
| ENST00000251127.10:c.3210C>T | ENSP00000251127.6:p.Asn1070= | |
| NM_052867.2:c.3210C>T | NP_443099.1:p.Asn1070= | |
| XM_011521067.1:c.3267C>T | XP_011519369.1:p.Asn1089= | |
| XM_011521068.1:c.3210C>T | XP_011519370.1:p.Asn1070= | |
| XM_011521069.1:c.3180C>T | XP_011519371.1:p.Asn1060= | |
| XM_011521070.1:c.2988C>T | XP_011519372.1:p.Asn996= | |
| NM_001350748.1:c.3297C>T | NP_001337677.1:p.Asn1099= | |
| NM_001350749.1:c.3210C>T | NP_001337678.1:p.Asn1070= | |
| NM_001350750.1:c.3123C>T | NP_001337679.1:p.Asn1041= | |
| NM_001350751.1:c.3123C>T | NP_001337680.1:p.Asn1041= | |
| NM_052867.3:c.3210C>T | NP_443099.1:p.Asn1070= | |
| XM_011521067.2:c.3267C>T | XP_011519369.1:p.Asn1089= | |
| XM_011521069.2:c.3180C>T | XP_011519371.1:p.Asn1060= | |
| XM_017020536.2:c.2763C>T | XP_016876025.1:p.Asn921= | |
| XM_017020537.1:c.2445C>T | XP_016876026.1:p.Asn815= | |
| XM_024449336.1:c.3354C>T | XP_024305104.1:p.Asn1118= | |
| NM_052867.4:c.3210C>T MANE Select | NP_443099.1:p.Asn1070= | |
| NM_001350748.2:c.3297C>T | NP_001337677.1:p.Asn1099= | |
| NM_001350749.2:c.3210C>T | NP_001337678.1:p.Asn1070= | |
| NM_001350750.2:c.3123C>T | NP_001337679.1:p.Asn1041= | |
| NM_001350751.2:c.3123C>T | NP_001337680.1:p.Asn1041= |