Linked Data
dbSNP Id:
rs13095226
gnomAD v2:
3-99396272-T-C
gnomAD v3:
3-99677428-T-C
gnomAD v4:
3-99677428-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.99677428T>C , CM000665.2:g.99677428T>C | GRCh38 |
| NC_000003.11:g.99396272T>C , CM000665.1:g.99396272T>C | GRCh37 |
| NC_000003.10:g.100878962T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652472.1:c.-129+38764T>C MANE Select | ENSP00000498483.1:n.-129+38764T>C | |
| ENST00000261037.7:c.-129+1707T>C | ENSP00000261037.3:n.-129+1707T>C | |
| ENST00000273342.8:c.-129+38764T>C | ENSP00000273342.3:n.-129+38764T>C | |
| ENST00000452013.5:c.-129+38764T>C | ENSP00000387589.1:n.-129+38764T>C | |
| ENST00000463753.5:n.253-323T>C | ||
| ENST00000474648.5:n.252+1707T>C | ||
| ENST00000483969.5:n.252+1707T>C | ||
| ENST00000621757.1:c.-298-13971T>C | ENSP00000482679.1:n.-298-13971T>C | |
| NM_001850.4:c.-129+1707T>C | NP_001841.2:n.-129+1707T>C | |
| NM_020351.3:c.-129+38764T>C | NP_065084.2:n.-129+38764T>C | |
| NM_020351.4:c.-129+38764T>C MANE Select | NP_065084.2:n.-129+38764T>C | |
| NM_001850.5:c.-129+1707T>C | NP_001841.2:n.-129+1707T>C |