Linked Data
dbSNP Id:
rs912156191
gnomAD v2:
6-111794457-T-C
gnomAD v3:
6-111473254-T-C
gnomAD v4:
6-111473254-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111473254T>C , CM000668.2:g.111473254T>C | GRCh38 |
| NC_000006.11:g.111794457T>C , CM000668.1:g.111794457T>C | GRCh37 |
| NC_000006.10:g.111901150T>C | NCBI36 |
| NG_053000.1:g.15462A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368802.8:c.139+9496A>G MANE Select | ENSP00000357792.3:n.139+9496A>G | |
| ENST00000358835.7:c.139+9496A>G | ENSP00000351697.3:n.139+9496A>G | |
| ENST00000368802.7:c.139+9496A>G | ENSP00000357792.3:n.139+9496A>G | |
| ENST00000368805.5:c.139+9496A>G | ENSP00000357795.1:n.139+9496A>G | |
| ENST00000422377.5:c.140-1114A>G | ENSP00000393184.1:n.140-1114A>G | |
| ENST00000434009.5:c.140-1114A>G | ENSP00000391605.1:n.140-1114A>G | |
| ENST00000435970.5:c.-223-1114A>G | ENSP00000402003.1:n.-223-1114A>G | |
| NM_001286431.1:c.-330-1114A>G | NP_001273360.1:n.-330-1114A>G | |
| NM_001286432.1:c.-223-1114A>G | NP_001273361.1:n.-223-1114A>G | |
| NM_002912.4:c.139+9496A>G | NP_002903.3:n.139+9496A>G | |
| XM_006715543.2:c.139+9496A>G | XP_006715606.1:n.139+9496A>G | |
| XM_006715544.2:c.-223-1114A>G | XP_006715607.1:n.-223-1114A>G | |
| XM_011536028.1:c.139+9496A>G | XP_011534330.1:n.139+9496A>G | |
| XM_011536029.1:c.139+9496A>G | XP_011534331.1:n.139+9496A>G | |
| XM_011536030.1:c.139+9496A>G | XP_011534332.1:n.139+9496A>G | |
| XM_011536031.1:c.-223-1114A>G | XP_011534333.1:n.-223-1114A>G | |
| XM_011536032.1:c.-224+992A>G | XP_011534334.1:n.-224+992A>G | |
| XM_011536033.1:c.139+9496A>G | XP_011534335.1:n.139+9496A>G | |
| XM_011536034.1:c.139+9496A>G | XP_011534336.1:n.139+9496A>G | |
| XM_011536035.1:c.139+9496A>G | XP_011534337.1:n.139+9496A>G | |
| XM_011536036.1:c.139+9496A>G | XP_011534338.1:n.139+9496A>G | |
| XR_942545.1:n.688+9496A>G | ||
| XR_942546.1:n.688+9496A>G | ||
| XM_011536028.2:c.139+9496A>G | XP_011534330.1:n.139+9496A>G | |
| XM_011536029.3:c.139+9496A>G | XP_011534331.1:n.139+9496A>G | |
| XM_011536030.3:c.139+9496A>G | XP_011534332.1:n.139+9496A>G | |
| XM_011536031.3:c.-223-1114A>G | XP_011534333.1:n.-223-1114A>G | |
| XM_011536032.2:c.-224+992A>G | XP_011534334.1:n.-224+992A>G | |
| XM_011536036.3:c.139+9496A>G | XP_011534338.1:n.139+9496A>G | |
| XM_017011152.2:c.-223-1114A>G | XP_016866641.1:n.-223-1114A>G | |
| XM_017011153.1:c.-224+992A>G | XP_016866642.1:n.-224+992A>G | |
| XM_017011154.1:c.-223-1114A>G | XP_016866643.1:n.-223-1114A>G | |
| XM_017011155.2:c.139+9496A>G | XP_016866644.1:n.139+9496A>G | |
| XR_001743550.2:n.435+9496A>G | ||
| XR_001743552.2:n.435+9496A>G | ||
| XR_001743553.2:n.435+9496A>G | ||
| XR_001743554.2:n.435+9496A>G | ||
| XR_001743555.2:n.435+9496A>G | ||
| XR_001743556.2:n.435+9496A>G | ||
| XR_002956293.1:n.435+9496A>G | ||
| NM_001286431.2:c.-330-1114A>G | NP_001273360.1:n.-330-1114A>G | |
| NM_001372078.1:c.139+9496A>G MANE Select | NP_001359007.1:n.139+9496A>G | |
| NM_001286432.2:c.-223-1114A>G | NP_001273361.1:n.-223-1114A>G | |
| NM_002912.5:c.139+9496A>G | NP_002903.3:n.139+9496A>G |