Linked Data
dbSNP Id:
rs1227648548
gnomAD v2:
3-53878493-C-A
gnomAD v3:
3-53844466-C-A
gnomAD v4:
3-53844466-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53844466C>A , CM000665.2:g.53844466C>A | GRCh38 |
| NC_000003.11:g.53878493C>A , CM000665.1:g.53878493C>A | GRCh37 |
| NC_000003.10:g.53853533C>A | NCBI36 |
| NG_028042.1:g.6928G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315251.11:c.-131+1617G>T MANE Select | ENSP00000319851.5:n.-131+1617G>T | |
| ENST00000315251.10:c.-131+1617G>T | ENSP00000319851.5:n.-131+1617G>T | |
| ENST00000467802.1:c.-131+247G>T | ENSP00000419863.1:n.-131+247G>T | |
| ENST00000481668.5:c.-131+116G>T | ENSP00000418273.1:n.-131+116G>T | |
| NM_018397.4:c.-131+1617G>T | NP_060867.2:n.-131+1617G>T | |
| XM_006713250.2:c.-131+1617G>T | XP_006713313.1:n.-131+1617G>T | |
| XM_006713251.2:c.-131+1356G>T | XP_006713314.1:n.-131+1356G>T | |
| XM_006713252.2:c.-131+1617G>T | XP_006713315.1:n.-131+1617G>T | |
| XM_011533938.1:c.-131+247G>T | XP_011532240.1:n.-131+247G>T | |
| XM_011533939.1:c.-131+377G>T | XP_011532241.1:n.-131+377G>T | |
| XM_006713250.4:c.-131+1617G>T | XP_006713313.1:n.-131+1617G>T | |
| XM_006713251.4:c.-131+1356G>T | XP_006713314.1:n.-131+1356G>T | |
| XM_006713252.4:c.-131+1617G>T | XP_006713315.1:n.-131+1617G>T | |
| XM_011533938.3:c.-131+247G>T | XP_011532240.1:n.-131+247G>T | |
| XM_011533939.3:c.-131+377G>T | XP_011532241.1:n.-131+377G>T | |
| XM_017006797.2:c.-131+247G>T | XP_016862286.1:n.-131+247G>T | |
| XM_017006799.2:c.-131+1617G>T | XP_016862288.1:n.-131+1617G>T | |
| XR_001740199.2:n.382+1617G>T | ||
| XR_002959545.1:n.382+1617G>T | ||
| NM_018397.5:c.-131+1617G>T MANE Select | NP_060867.2:n.-131+1617G>T |