Linked Data
dbSNP Id:
rs771904235
ExAC:
10:69955297 C / G
gnomAD v2:
10-69955297-C-G
gnomAD v4:
10-68195540-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195540C>G , CM000672.2:g.68195540C>G | GRCh38 |
| NC_000010.10:g.69955297C>G , CM000672.1:g.69955297C>G | GRCh37 |
| NC_000010.9:g.69625303C>G | NCBI36 |
| NG_032118.1:g.94424C>G , LRG_410:g.94424C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2333+8C>G | ENSP00000346369.2:n.2333+8C>G | |
| ENST00000540630.6:c.3212+8C>G | ENSP00000441668.3:n.3212+8C>G | |
| ENST00000613327.5:c.3158+8C>G | ENSP00000480757.2:n.3158+8C>G | |
| ENST00000688812.1:c.*421+8C>G | ENSP00000510658.1:n.*421+8C>G | |
| ENST00000690544.1:c.*2429+8C>G | ENSP00000508989.1:n.*2429+8C>G | |
| ENST00000358913.10:c.3158+8C>G MANE Select | ENSP00000351790.5:n.3158+8C>G | |
| ENST00000354393.6:c.2333+8C>G | ENSP00000346369.2:n.2333+8C>G | |
| ENST00000358913.9:c.3158+8C>G | ENSP00000351790.5:n.3158+8C>G | |
| ENST00000540630.5:c.3158+8C>G | ENSP00000441668.2:n.3158+8C>G | |
| ENST00000613327.4:c.2276+8C>G | ENSP00000480757.1:n.2276+8C>G | |
| NM_001256267.1:c.3158+8C>G | NP_001243196.1:n.3158+8C>G | |
| NM_001256268.1:c.2276+8C>G | NP_001243197.1:n.2276+8C>G | |
| NM_032578.3:c.3158+8C>G , LRG_410t1:c.3158+8C>G | NP_115967.2:n.3158+8C>G | |
| NR_045662.3:n.2585+8C>G | ||
| NR_045663.3:n.3287+8C>G | ||
| XM_006718043.2:c.3212+8C>G | XP_006718106.1:n.3212+8C>G | |
| XM_011540292.1:c.3188+8C>G | XP_011538594.1:n.3188+8C>G | |
| XM_017016833.1:c.3236+8C>G | XP_016872322.1:n.3236+8C>G | |
| XM_017016834.2:c.3158+8C>G | XP_016872323.1:n.3158+8C>G | |
| XM_024448236.1:c.2036+8C>G | XP_024304004.1:n.2036+8C>G | |
| NR_045662.4:n.2695+8C>G | ||
| NR_045663.4:n.3232+8C>G | ||
| NM_001256267.2:c.3158+8C>G | NP_001243196.1:n.3158+8C>G | |
| NM_001256268.2:c.2276+8C>G | NP_001243197.1:n.2276+8C>G | |
| NM_032578.4:c.3158+8C>G MANE Select | NP_115967.2:n.3158+8C>G |