Linked Data
dbSNP Id:
rs971435971
gnomAD v2:
10-69955388-G-A
gnomAD v3:
10-68195631-G-A
gnomAD v4:
10-68195631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195631G>A , CM000672.2:g.68195631G>A | GRCh38 |
| NC_000010.10:g.69955388G>A , CM000672.1:g.69955388G>A | GRCh37 |
| NC_000010.9:g.69625394G>A | NCBI36 |
| NG_032118.1:g.94515G>A , LRG_410:g.94515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2333+99G>A | ENSP00000346369.2:n.2333+99G>A | |
| ENST00000540630.6:c.3212+99G>A | ENSP00000441668.3:n.3212+99G>A | |
| ENST00000613327.5:c.3158+99G>A | ENSP00000480757.2:n.3158+99G>A | |
| ENST00000688812.1:c.*421+99G>A | ENSP00000510658.1:n.*421+99G>A | |
| ENST00000690544.1:c.*2429+99G>A | ENSP00000508989.1:n.*2429+99G>A | |
| ENST00000358913.10:c.3158+99G>A MANE Select | ENSP00000351790.5:n.3158+99G>A | |
| ENST00000354393.6:c.2333+99G>A | ENSP00000346369.2:n.2333+99G>A | |
| ENST00000358913.9:c.3158+99G>A | ENSP00000351790.5:n.3158+99G>A | |
| ENST00000540630.5:c.3158+99G>A | ENSP00000441668.2:n.3158+99G>A | |
| ENST00000613327.4:c.2276+99G>A | ENSP00000480757.1:n.2276+99G>A | |
| NM_001256267.1:c.3158+99G>A | NP_001243196.1:n.3158+99G>A | |
| NM_001256268.1:c.2276+99G>A | NP_001243197.1:n.2276+99G>A | |
| NM_032578.3:c.3158+99G>A , LRG_410t1:c.3158+99G>A | NP_115967.2:n.3158+99G>A | |
| NR_045662.3:n.2585+99G>A | ||
| NR_045663.3:n.3287+99G>A | ||
| XM_006718043.2:c.3212+99G>A | XP_006718106.1:n.3212+99G>A | |
| XM_011540292.1:c.3188+99G>A | XP_011538594.1:n.3188+99G>A | |
| XM_017016833.1:c.3236+99G>A | XP_016872322.1:n.3236+99G>A | |
| XM_017016834.2:c.3158+99G>A | XP_016872323.1:n.3158+99G>A | |
| XM_024448236.1:c.2036+99G>A | XP_024304004.1:n.2036+99G>A | |
| NR_045662.4:n.2695+99G>A | ||
| NR_045663.4:n.3232+99G>A | ||
| NM_001256267.2:c.3158+99G>A | NP_001243196.1:n.3158+99G>A | |
| NM_001256268.2:c.2276+99G>A | NP_001243197.1:n.2276+99G>A | |
| NM_032578.4:c.3158+99G>A MANE Select | NP_115967.2:n.3158+99G>A |