Linked Data
dbSNP Id:
rs2284922
ExAC:
6:37349033 G / A
gnomAD v2:
6-37349033-G-A
gnomAD v3:
6-37381257-G-A
gnomAD v4:
6-37381257-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37381257G>A , CM000668.2:g.37381257G>A | GRCh38 |
| NC_000006.11:g.37349033G>A , CM000668.1:g.37349033G>A | GRCh37 |
| NC_000006.10:g.37457011G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373479.9:c.1344G>A MANE Select | ENSP00000362578.4:p.Thr448= | |
| ENST00000229866.10:c.*1153G>A | ENSP00000229866.6:n.*1153G>A | |
| ENST00000373479.8:c.1344G>A | ENSP00000362578.4:p.Thr448= | |
| ENST00000469731.5:c.1236+4224G>A | ENSP00000418879.1:n.1236+4224G>A | |
| ENST00000498460.1:c.514+4224G>A | ||
| NM_003958.3:c.1344G>A | NP_003949.1:p.Thr448= | |
| NM_183078.2:c.1236+4224G>A | NP_898901.1:n.1236+4224G>A | |
| NR_046399.1:n.1643G>A | ||
| XM_006715241.2:c.1254G>A | XP_006715304.1:p.Thr418= | |
| XM_006715242.2:c.1146+4224G>A | XP_006715305.1:n.1146+4224G>A | |
| XR_427853.2:n.1461+4224G>A | ||
| XR_427854.2:n.1568G>A | ||
| XR_427855.2:n.1460+4224G>A | ||
| XR_427857.2:n.1370+4224G>A | ||
| XM_006715241.3:c.1254G>A | XP_006715304.1:p.Thr418= | |
| XM_006715242.3:c.1146+4224G>A | XP_006715305.1:n.1146+4224G>A | |
| XM_017011462.1:c.1173G>A | XP_016866951.1:p.Thr391= | |
| XM_017011463.1:c.1065+4224G>A | XP_016866952.1:n.1065+4224G>A | |
| XM_017011464.1:c.1032+4224G>A | XP_016866953.1:n.1032+4224G>A | |
| XR_001743731.2:n.1558G>A | ||
| XR_001743734.2:n.1641G>A | ||
| XR_427853.3:n.1450+4224G>A | ||
| NM_003958.4:c.1344G>A MANE Select | NP_003949.1:p.Thr448= | |
| NM_183078.3:c.1236+4224G>A | NP_898901.1:n.1236+4224G>A | |
| NR_046399.2:n.1632G>A |