gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8856124G>T , CM000682.2:g.8856124G>T | GRCh38 |
| NC_000020.10:g.8836771G>T , CM000682.1:g.8836771G>T | GRCh37 |
| NC_000020.9:g.8784771G>T | NCBI36 |
| NG_028168.1:g.728476G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338037.11:c.3424-25498G>T MANE Select | ENSP00000338185.6:n.3424-25498G>T | |
| ENST00000635929.1:c.592+65863G>T | ||
| ENST00000637919.1:c.*20-25498G>T | ENSP00000490862.1:n.*20-25498G>T | |
| ENST00000637935.1:c.41-25504G>T | ||
| ENST00000338037.10:c.3424-25498G>T | ENSP00000338185.6:n.3424-25498G>T | |
| ENST00000378641.7:c.*20-25498G>T | ENSP00000367908.3:n.*20-25498G>T | |
| ENST00000487210.5:c.2763+53951G>T | ||
| ENST00000612075.4:c.3302-25498G>T | ENSP00000479997.1:n.3302-25498G>T | |
| ENST00000617005.4:c.3184-25498G>T | ENSP00000477664.1:n.3184-25498G>T | |
| NM_015192.3:c.3424-25498G>T | NP_056007.1:n.3424-25498G>T | |
| NM_182734.2:c.*20-25498G>T | NP_877398.1:n.*20-25498G>T | |
| XM_011529200.1:c.3208-25498G>T | XP_011527502.1:n.3208-25498G>T | |
| XM_011529201.1:c.3121-25498G>T | XP_011527503.1:n.3121-25498G>T | |
| XM_011529203.1:c.1651-25498G>T | XP_011527505.1:n.1651-25498G>T | |
| NM_015192.4:c.3424-25498G>T MANE Select | NP_056007.1:n.3424-25498G>T | |
| NM_182734.3:c.*20-25498G>T | NP_877398.1:n.*20-25498G>T |