gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75451512G>T , CM000676.2:g.75451512G>T | GRCh38 |
| NC_000014.8:g.75918215G>T , CM000676.1:g.75918215G>T | GRCh37 |
| NC_000014.7:g.74987968G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651602.1:c.202-9914G>T MANE Select | ENSP00000498745.1:n.202-9914G>T | |
| ENST00000267569.5:c.235-9914G>T | ENSP00000267569.5:n.235-9914G>T | |
| ENST00000419727.6:c.202-9914G>T | ENSP00000415558.2:n.202-9914G>T | |
| ENST00000435893.6:c.202-9914G>T | ENSP00000399587.2:n.202-9914G>T | |
| ENST00000437176.5:c.202-9914G>T | ENSP00000409787.1:n.202-9914G>T | |
| ENST00000559060.5:c.202-9914G>T | ENSP00000452769.1:n.202-9914G>T | |
| NM_001135047.1:c.202-9914G>T | NP_001128519.1:n.202-9914G>T | |
| NM_001135048.1:c.202-9914G>T | NP_001128520.1:n.202-9914G>T | |
| NM_001135049.1:c.235-9914G>T | NP_001128521.1:n.235-9914G>T | |
| NM_130469.3:c.202-9914G>T | NP_569736.1:n.202-9914G>T | |
| XM_005267332.3:c.202-9914G>T | XP_005267389.1:n.202-9914G>T | |
| XM_006720032.2:c.235-9914G>T | XP_006720095.1:n.235-9914G>T | |
| XM_005267332.4:c.202-9914G>T | XP_005267389.1:n.202-9914G>T | |
| XM_017020971.1:c.331-9914G>T | XP_016876460.1:n.331-9914G>T | |
| XM_017020972.1:c.235-9914G>T | XP_016876461.1:n.235-9914G>T | |
| XM_017020973.1:c.202-9914G>T | XP_016876462.1:n.202-9914G>T | |
| XM_017020974.1:c.202-9914G>T | XP_016876463.1:n.202-9914G>T | |
| XM_017020975.2:c.202-9914G>T | XP_016876464.1:n.202-9914G>T | |
| NM_001135048.2:c.202-9914G>T MANE Select | NP_001128520.1:n.202-9914G>T | |
| NM_001135047.2:c.202-9914G>T | NP_001128519.1:n.202-9914G>T |