Linked Data
dbSNP Id:
rs13072552
gnomAD v2:
3-148913126-G-T
gnomAD v3:
3-149195339-G-T
gnomAD v4:
3-149195339-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149195339G>T , CM000665.2:g.149195339G>T | GRCh38 |
| NC_000003.11:g.148913126G>T , CM000665.1:g.148913126G>T | GRCh37 |
| NC_000003.10:g.150395816G>T | NCBI36 |
| NG_011800.1:g.31707C>A | |
| NG_011800.2:g.31707C>A | |
| NG_011800.3:g.31707C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.1713+3028C>A MANE Select | ENSP00000264613.6:n.1713+3028C>A | |
| ENST00000264613.10:c.1713+3028C>A | ENSP00000264613.6:n.1713+3028C>A | |
| ENST00000462336.5:n.87+3028C>A | ||
| ENST00000471356.1:n.532+3028C>A | ||
| ENST00000481169.5:c.1713+3028C>A | ENSP00000418773.1:n.1713+3028C>A | |
| ENST00000489736.5:n.938+3028C>A | ||
| ENST00000490639.5:n.1745+3028C>A | ||
| ENST00000494544.1:c.1062+3028C>A | ENSP00000420545.1:n.1062+3028C>A | |
| ENST00000497797.5:n.322+3028C>A | ||
| NM_000096.3:c.1713+3028C>A | NP_000087.1:n.1713+3028C>A | |
| NR_046371.1:n.1966+3028C>A | ||
| XM_006713499.2:c.1713+3028C>A | XP_006713562.1:n.1713+3028C>A | |
| XM_006713500.2:c.1713+3028C>A | XP_006713563.1:n.1713+3028C>A | |
| XM_006713501.2:c.1713+3028C>A | XP_006713564.1:n.1713+3028C>A | |
| XM_006713502.2:c.1713+3028C>A | XP_006713565.1:n.1713+3028C>A | |
| XM_011512435.1:c.1713+3028C>A | XP_011510737.1:n.1713+3028C>A | |
| XR_427361.2:n.1971+3028C>A | ||
| XM_006713499.3:c.1713+3028C>A | XP_006713562.1:n.1713+3028C>A | |
| XM_006713500.4:c.1713+3028C>A | XP_006713563.1:n.1713+3028C>A | |
| XM_006713501.3:c.1713+3028C>A | XP_006713564.1:n.1713+3028C>A | |
| XM_011512435.2:c.1713+3028C>A | XP_011510737.1:n.1713+3028C>A | |
| XM_017005734.2:c.1713+3028C>A | XP_016861223.1:n.1713+3028C>A | |
| XM_017005735.2:c.1713+3028C>A | XP_016861224.1:n.1713+3028C>A | |
| XR_427361.3:n.1929+3028C>A | ||
| NM_000096.4:c.1713+3028C>A MANE Select | NP_000087.2:n.1713+3028C>A | |
| NR_046371.2:n.1750+3028C>A |