Linked Data
dbSNP Id:
rs11536869
gnomAD v2:
9-120469832-A-G
gnomAD v3:
9-117707554-A-G
gnomAD v4:
9-117707554-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117707554A>G , CM000671.2:g.117707554A>G | GRCh38 |
| NC_000009.11:g.120469832A>G , CM000671.1:g.120469832A>G | GRCh37 |
| NC_000009.10:g.119509653A>G | NCBI36 |
| NG_011475.1:g.8373A>G | |
| NG_011475.2:g.8152A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646089.2:c.93+2989A>G | ENSP00000496197.1:n.93+2989A>G | |
| ENST00000697624.1:n.200+2989A>G | ||
| ENST00000697625.1:c.93+2989A>G | ENSP00000513362.1:n.93+2989A>G | |
| ENST00000697636.1:c.93+2989A>G | ENSP00000513366.1:n.93+2989A>G | |
| ENST00000697637.1:c.93+2989A>G | ENSP00000513367.1:n.93+2989A>G | |
| ENST00000697664.1:c.-147-645A>G | ENSP00000513389.1:n.-147-645A>G | |
| ENST00000697665.1:c.93+2989A>G | ENSP00000513390.1:n.93+2989A>G | |
| ENST00000697666.1:c.-147-645A>G | ENSP00000513391.1:n.-147-645A>G | |
| ENST00000355622.8:c.94-1009A>G MANE Select | ENSP00000363089.5:n.94-1009A>G | |
| ENST00000394487.5:c.-147-645A>G | ENSP00000377997.4:n.-147-645A>G | |
| ENST00000472304.2:c.93+2989A>G | ENSP00000496429.1:n.93+2989A>G | |
| ENST00000642985.1:c.94-1009A>G | ENSP00000493686.1:n.94-1009A>G | |
| ENST00000646089.1:c.93+2989A>G | ENSP00000496197.1:n.93+2989A>G | |
| ENST00000665764.1:c.93+2989A>G | ENSP00000499745.1:n.93+2989A>G | |
| ENST00000355622.6:c.94-1009A>G | ENSP00000363089.5:n.94-1009A>G | |
| ENST00000394487.4:c.-147-645A>G | ENSP00000377997.4:n.-147-645A>G | |
| ENST00000472304.1:n.177+2989A>G | ||
| NM_003266.3:c.-147-645A>G | NP_003257.1:n.-147-645A>G | |
| NM_138554.4:c.94-1009A>G | NP_612564.1:n.94-1009A>G | |
| NM_138557.2:c.-341+2989A>G | NP_612567.1:n.-341+2989A>G | |
| NM_138554.5:c.94-1009A>G MANE Select | NP_612564.1:n.94-1009A>G | |
| NM_003266.4:c.-147-645A>G | NP_003257.1:n.-147-645A>G | |
| NM_138557.3:c.-341+2989A>G | NP_612567.1:n.-341+2989A>G |