gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66994210A>C , CM000669.2:g.66994210A>C | GRCh38 |
| NC_000007.13:g.66459197A>C , CM000669.1:g.66459197A>C | GRCh37 |
| NC_000007.12:g.66096632A>C | NCBI36 |
| NG_007277.1:g.6392T>G , LRG_104:g.6392T>G | |
| NG_033069.1:g.2406A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.250+10T>G | ENSP00000394586.1:n.250+10T>G | |
| ENST00000697860.1:n.225+2T>G | ||
| ENST00000697861.1:c.258+2T>G | ENSP00000513460.1:n.258+2T>G | |
| ENST00000697862.1:c.258+2T>G | ENSP00000513461.1:n.258+2T>G | |
| ENST00000697863.1:c.201+2T>G | ENSP00000513462.1:n.201+2T>G | |
| ENST00000697864.1:n.1402+2T>G | ||
| ENST00000697865.1:c.201+2T>G | ENSP00000513463.1:n.201+2T>G | |
| ENST00000697866.1:c.-61+2T>G | ENSP00000513464.1:n.-61+2T>G | |
| ENST00000697867.1:c.98+2T>G | ||
| ENST00000697868.1:c.*22+2T>G | ENSP00000513466.1:n.*22+2T>G | |
| ENST00000697869.1:c.194+2T>G | ENSP00000513467.1:n.194+2T>G | |
| ENST00000697897.1:c.258+2T>G | ENSP00000513469.1:n.258+2T>G | |
| ENST00000246868.7:c.258+2T>G MANE Select | ENSP00000246868.2:n.258+2T>G | |
| ENST00000246868.6:c.258+2T>G | ENSP00000246868.2:n.258+2T>G | |
| ENST00000414306.5:c.250+10T>G | ENSP00000394586.1:n.250+10T>G | |
| ENST00000463579.1:n.147+10T>G | ||
| ENST00000490953.5:n.399+10T>G | ||
| ENST00000617799.1:c.258+2T>G | ENSP00000483040.1:n.258+2T>G | |
| NM_016038.2:c.258+2T>G , LRG_104t1:c.258+2T>G | NP_057122.2:n.258+2T>G | |
| NM_016038.3:c.258+2T>G | NP_057122.2:n.258+2T>G | |
| NM_016038.4:c.258+2T>G MANE Select | NP_057122.2:n.258+2T>G |