gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13914914G>T , CM000680.2:g.13914914G>T | GRCh38 |
| NC_000018.9:g.13914913G>T , CM000680.1:g.13914913G>T | GRCh37 |
| NC_000018.8:g.13904913G>T | NCBI36 |
| NG_011819.1:g.5623C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.-129+574C>A MANE Select | ENSP00000333821.2:n.-129+574C>A | |
| ENST00000327606.3:c.-129+574C>A | ENSP00000333821.2:n.-129+574C>A | |
| ENST00000399821.2:c.-129+716C>A | ENSP00000382718.2:n.-129+716C>A | |
| NM_000529.2:c.-129+574C>A MANE Select | NP_000520.1:n.-129+574C>A | |
| NM_001291911.1:c.-129+716C>A | NP_001278840.1:n.-129+716C>A | |
| XM_017025781.1:c.-661+574C>A | XP_016881270.1:n.-661+574C>A |