Linked Data
dbSNP Id:
rs56409518
gnomAD v2:
11-129978671-A-G
gnomAD v3:
11-130108776-A-G
gnomAD v4:
11-130108776-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130108776A>G , CM000673.2:g.130108776A>G | GRCh38 |
| NC_000011.9:g.129978671A>G , CM000673.1:g.129978671A>G | GRCh37 |
| NC_000011.8:g.129483881A>G | NCBI36 |
| NG_029770.1:g.43956A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338167.10:c.106-653A>G MANE Select | ENSP00000345444.5:n.106-653A>G | |
| ENST00000650012.1:c.106-653A>G | ENSP00000497691.1:n.106-653A>G | |
| ENST00000263574.9:c.106-653A>G | ENSP00000263574.5:n.106-653A>G | |
| ENST00000278756.7:c.136-653A>G | ENSP00000278756.7:n.136-653A>G | |
| ENST00000338167.9:c.106-653A>G | ENSP00000345444.5:n.106-653A>G | |
| ENST00000345598.9:c.106-653A>G | ENSP00000263575.6:n.106-653A>G | |
| ENST00000461918.2:n.172A>G | ||
| ENST00000526330.5:n.190-653A>G | ||
| ENST00000527702.5:n.190-1762A>G | ||
| ENST00000528499.5:c.106-653A>G | ENSP00000435914.1:n.106-653A>G | |
| ENST00000529235.5:n.122-653A>G | ||
| ENST00000529701.1:n.190-653A>G | ||
| ENST00000530132.5:c.*154-653A>G | ENSP00000433582.1:n.*154-653A>G | |
| ENST00000532456.5:n.391-653A>G | ||
| ENST00000533195.5:c.181-653A>G | ENSP00000434059.1:n.181-653A>G | |
| ENST00000533532.5:n.190-653A>G | ||
| ENST00000533616.5:c.106-11930A>G | ENSP00000434592.1:n.106-11930A>G | |
| ENST00000533618.5:n.190-653A>G | ||
| ENST00000533713.5:c.61-653A>G | ENSP00000434379.1:n.61-653A>G | |
| ENST00000534001.1:n.126-774A>G | ||
| ENST00000534582.5:c.106-653A>G | ENSP00000435470.1:n.106-653A>G | |
| ENST00000534761.5:n.193-653A>G | ||
| NM_001142276.1:c.106-653A>G | NP_001135748.1:n.106-653A>G | |
| NM_001142277.1:c.106-653A>G | NP_001135749.1:n.106-653A>G | |
| NM_001142278.1:c.106-653A>G | NP_001135750.1:n.106-653A>G | |
| NM_001243299.1:c.136-653A>G | NP_001230228.1:n.136-653A>G | |
| NM_001642.2:c.106-653A>G | NP_001633.1:n.106-653A>G | |
| NR_024515.1:n.263-653A>G | ||
| NR_024516.1:n.263-11930A>G | ||
| NM_001328682.1:c.106-653A>G | NP_001315611.1:n.106-653A>G | |
| NM_001328684.1:c.106-653A>G | NP_001315613.1:n.106-653A>G | |
| NM_001328685.1:c.106-653A>G | NP_001315614.1:n.106-653A>G | |
| NM_001328686.1:c.106-653A>G | NP_001315615.1:n.106-653A>G | |
| NM_001142276.2:c.106-653A>G MANE Select | NP_001135748.1:n.106-653A>G | |
| NM_001142277.2:c.106-653A>G | NP_001135749.1:n.106-653A>G | |
| NM_001142278.2:c.106-653A>G | NP_001135750.1:n.106-653A>G | |
| NM_001328682.2:c.106-653A>G | NP_001315611.1:n.106-653A>G | |
| NM_001328684.2:c.106-653A>G | NP_001315613.1:n.106-653A>G | |
| NM_001328685.2:c.106-653A>G | NP_001315614.1:n.106-653A>G | |
| NM_001328686.2:c.106-653A>G | NP_001315615.1:n.106-653A>G | |
| NM_001642.3:c.106-653A>G | NP_001633.1:n.106-653A>G | |
| NR_024515.2:n.190-653A>G | ||
| NR_024516.2:n.190-11930A>G | ||
| NM_001243299.2:c.136-653A>G | NP_001230228.1:n.136-653A>G | |
| NM_001382526.1:c.106-653A>G | NP_001369455.1:n.106-653A>G | |
| NM_001382527.1:c.106-653A>G | NP_001369456.1:n.106-653A>G | |
| NM_001382528.1:c.106-653A>G | NP_001369457.1:n.106-653A>G | |
| NM_001382529.1:c.106-653A>G | NP_001369458.1:n.106-653A>G | |
| NM_001382530.1:c.106-653A>G | NP_001369459.1:n.106-653A>G | |
| NM_001382531.1:c.106-653A>G | NP_001369460.1:n.106-653A>G | |
| NM_001382532.1:c.106-653A>G | NP_001369461.1:n.106-653A>G | |
| NM_001382533.1:c.106-1762A>G | NP_001369462.1:n.106-1762A>G | |
| NM_001382534.1:c.106-653A>G | NP_001369463.1:n.106-653A>G | |
| NM_001382535.1:c.106-653A>G | NP_001369464.1:n.106-653A>G | |
| NM_001382536.1:c.106-1762A>G | NP_001369465.1:n.106-1762A>G | |
| NM_001382537.1:c.106-653A>G | NP_001369466.1:n.106-653A>G | |
| NM_001382538.1:c.106-653A>G | NP_001369467.1:n.106-653A>G | |
| NM_001382539.1:c.106-1762A>G | NP_001369468.1:n.106-1762A>G | |
| NM_001382540.1:c.106-1762A>G | NP_001369469.1:n.106-1762A>G | |
| NM_001382541.1:c.106-653A>G | NP_001369470.1:n.106-653A>G | |
| NM_001382542.1:c.-65-11930A>G | NP_001369471.1:n.-65-11930A>G | |
| NM_001382543.1:c.106-653A>G | NP_001369472.1:n.106-653A>G | |
| NM_001382544.1:c.106-653A>G | NP_001369473.1:n.106-653A>G | |
| NM_001382545.1:c.106-653A>G | NP_001369474.1:n.106-653A>G | |
| NM_001382546.1:c.106-653A>G | NP_001369475.1:n.106-653A>G | |
| NR_168388.1:n.190-653A>G | ||
| NR_168389.1:n.190-11930A>G | ||
| NR_168390.1:n.190-11930A>G | ||
| NR_168391.1:n.190-653A>G | ||
| NR_168392.1:n.190-653A>G | ||
| NR_168393.1:n.190-653A>G | ||
| NR_168394.1:n.190-653A>G |