gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404301C>T , CM000666.2:g.73404301C>T | GRCh38 |
| NC_000004.11:g.74270018C>T , CM000666.1:g.74270018C>T | GRCh37 |
| NC_000004.10:g.74488882C>T | NCBI36 |
| NG_009291.1:g.5047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.-27C>T MANE Select | ENSP00000295897.4:n.-27C>T | |
| ENST00000295897.8:c.-27C>T | ENSP00000295897.4:n.-27C>T | |
| ENST00000415165.6:c.-27C>T | ENSP00000401820.2:n.-27C>T | |
| ENST00000441319.5:c.48-68C>T | ENSP00000392541.1:n.48-68C>T | |
| ENST00000476441.6:c.-27C>T | ENSP00000423727.1:n.-27C>T | |
| ENST00000503124.5:c.-207C>T | ENSP00000421027.1:n.-207C>T | |
| ENST00000510166.5:n.15C>T | ||
| ENST00000514786.1:n.13C>T | ||
| ENST00000515133.5:n.15C>T | ||
| ENST00000621085.4:c.-27C>T | ENSP00000483421.1:n.-27C>T | |
| ENST00000621628.4:c.-27C>T | ENSP00000480485.1:n.-27C>T | |
| NM_000477.5:c.-27C>T | NP_000468.1:n.-27C>T | |
| NM_000477.6:c.-27C>T | NP_000468.1:n.-27C>T | |
| NM_000477.7:c.-27C>T MANE Select | NP_000468.1:n.-27C>T |