Linked Data
dbSNP Id:
rs1464108
gnomAD v2:
12-131022010-A-C
gnomAD v3:
12-130537465-A-C
gnomAD v4:
12-130537465-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130537465A>C , CM000674.2:g.130537465A>C | GRCh38 |
| NC_000012.11:g.131022010A>C , CM000674.1:g.131022010A>C | GRCh37 |
| NC_000012.10:g.129587963A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707118.1:c.-216-19548T>G | ENSP00000516746.1:n.-216-19548T>G | |
| ENST00000685265.1:c.-126-30695T>G | ENSP00000508558.1:n.-126-30695T>G | |
| ENST00000688340.1:c.-216-19548T>G | ENSP00000509541.1:n.-216-19548T>G | |
| ENST00000689851.1:c.-216-19548T>G | ENSP00000510770.1:n.-216-19548T>G | |
| ENST00000690449.1:c.-216-19548T>G MANE Select | ENSP00000509157.1:n.-216-19548T>G | |
| ENST00000690669.1:c.-216-19548T>G | ENSP00000510530.1:n.-216-19548T>G | |
| ENST00000691977.1:c.-126-30695T>G | ENSP00000510638.1:n.-126-30695T>G | |
| ENST00000541840.2:c.-216-19548T>G | ENSP00000494817.1:n.-216-19548T>G | |
| ENST00000643940.1:c.-126-30695T>G | ENSP00000495590.1:n.-126-30695T>G | |
| ENST00000536002.5:c.-1132-19548T>G | ENSP00000439159.1:n.-1132-19548T>G | |
| XM_011538102.1:c.-126-30695T>G | XP_011536404.1:n.-126-30695T>G | |
| XM_011538103.1:c.148-19548T>G | XP_011536405.1:n.148-19548T>G | |
| XM_011538104.1:c.-216-19548T>G | XP_011536406.1:n.-216-19548T>G | |
| XM_011538105.1:c.148-19548T>G | XP_011536407.1:n.148-19548T>G | |
| XM_011538106.1:c.148-19548T>G | XP_011536408.1:n.148-19548T>G | |
| XM_011538107.1:c.148-19548T>G | XP_011536409.1:n.148-19548T>G | |
| XM_011538108.1:c.148-19548T>G | XP_011536410.1:n.148-19548T>G | |
| NM_001351226.1:c.-216-19548T>G | NP_001338155.1:n.-216-19548T>G | |
| NM_001351227.1:c.-126-30695T>G | NP_001338156.1:n.-126-30695T>G | |
| NM_001351228.1:c.-216-19548T>G | NP_001338157.1:n.-216-19548T>G | |
| NM_001351229.1:c.-216-19548T>G | NP_001338158.1:n.-216-19548T>G | |
| NM_001351230.1:c.-216-19548T>G | NP_001338159.1:n.-216-19548T>G | |
| NM_001351231.1:c.-216-19548T>G | NP_001338160.1:n.-216-19548T>G | |
| NM_001351232.1:c.-216-19548T>G | NP_001338161.1:n.-216-19548T>G | |
| NM_001351233.1:c.-1132-19548T>G | NP_001338162.1:n.-1132-19548T>G | |
| NM_015347.5:c.-216-19548T>G | NP_056162.4:n.-216-19548T>G | |
| XM_011538102.2:c.-126-30695T>G | XP_011536404.1:n.-126-30695T>G | |
| XM_011538103.3:c.148-19548T>G | XP_011536405.1:n.148-19548T>G | |
| XM_011538104.3:c.-216-19548T>G | XP_011536406.1:n.-216-19548T>G | |
| XM_011538105.3:c.148-19548T>G | XP_011536407.1:n.148-19548T>G | |
| XM_011538106.3:c.148-19548T>G | XP_011536408.1:n.148-19548T>G | |
| XM_011538107.3:c.148-19548T>G | XP_011536409.1:n.148-19548T>G | |
| XM_011538108.3:c.148-19548T>G | XP_011536410.1:n.148-19548T>G | |
| XM_017019105.2:c.-216-19548T>G | XP_016874594.1:n.-216-19548T>G | |
| XM_017019106.2:c.148-19548T>G | XP_016874595.1:n.148-19548T>G | |
| NM_001351226.2:c.-216-19548T>G | NP_001338155.1:n.-216-19548T>G | |
| NM_001351227.2:c.-126-30695T>G | NP_001338156.1:n.-126-30695T>G | |
| NM_001351228.2:c.-216-19548T>G | NP_001338157.1:n.-216-19548T>G | |
| NM_001351229.2:c.-216-19548T>G | NP_001338158.1:n.-216-19548T>G | |
| NM_001351230.2:c.-216-19548T>G | NP_001338159.1:n.-216-19548T>G | |
| NM_001351231.2:c.-216-19548T>G | NP_001338160.1:n.-216-19548T>G | |
| NM_001351232.2:c.-216-19548T>G | NP_001338161.1:n.-216-19548T>G | |
| NM_001351233.2:c.-1132-19548T>G | NP_001338162.1:n.-1132-19548T>G | |
| NM_001393614.1:c.-216-19548T>G | NP_001380543.1:n.-216-19548T>G | |
| NM_001393615.1:c.-126-30695T>G | NP_001380544.1:n.-126-30695T>G | |
| NM_001393616.1:c.-126-30695T>G | NP_001380545.1:n.-126-30695T>G | |
| NM_001393617.1:c.-216-19548T>G | NP_001380546.1:n.-216-19548T>G | |
| NM_001393618.1:c.-126-30695T>G | NP_001380547.1:n.-126-30695T>G | |
| NM_001393619.1:c.-216-19548T>G | NP_001380548.1:n.-216-19548T>G | |
| NM_001393620.1:c.-216-19548T>G | NP_001380549.1:n.-216-19548T>G | |
| NM_001393621.1:c.-126-30695T>G | NP_001380550.1:n.-126-30695T>G | |
| NM_001393622.1:c.-126-30695T>G | NP_001380551.1:n.-126-30695T>G | |
| NM_001393623.1:c.-216-19548T>G | NP_001380552.1:n.-216-19548T>G | |
| NM_001393624.1:c.-127+25790T>G | NP_001380553.1:n.-127+25790T>G | |
| NM_001393625.1:c.-216-19548T>G | NP_001380554.1:n.-216-19548T>G | |
| NM_001393626.1:c.-127+20459T>G | NP_001380555.1:n.-127+20459T>G | |
| NM_001393627.1:c.-216-19548T>G | NP_001380556.1:n.-216-19548T>G | |
| NM_001393628.1:c.-216-19548T>G | NP_001380557.1:n.-216-19548T>G | |
| NM_001393629.1:c.-216-19548T>G MANE Select | NP_001380558.1:n.-216-19548T>G |