gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42141112G>A , CM000684.2:g.42141112G>A | GRCh38 |
| NC_000022.10:g.42537122G>A , CM000684.1:g.42537122G>A | GRCh37 |
| NC_000022.9:g.40867066G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435101.2:n.296+40C>T | ||
| ENST00000651010.1:n.3149+40C>T | ||
| ENST00000358097.8:c.1174+40C>T | ENSP00000445124.1:n.1174+40C>T | |
| ENST00000433992.2:c.1231+40C>T | ENSP00000439604.1:n.1231+40C>T | |
| ENST00000435101.1:c.296+40C>T | ENSP00000437680.2:n.296+40C>T | |
| ENST00000612115.1:c.1227+40C>T | ENSP00000484065.1:n.1227+40C>T | |
| ENST00000614967.4:c.1020+40C>T | ENSP00000481168.1:n.1020+40C>T | |
| NR_002570.3:n.1285+40C>T | ||
| NM_001348386.2:c.1230+40C>T | NP_001335315.1:n.1230+40C>T | |
| NR_002570.5:n.1193+40C>T | ||
| NR_145674.2:n.1250+40C>T | ||
| NM_001348386.3:c.1230+40C>T | NP_001335315.1:n.1230+40C>T | |
| NR_002570.6:n.1193+40C>T | ||
| NR_145674.3:n.1250+40C>T |