Linked Data
dbSNP Id:
rs2007084
gnomAD v2:
15-90345335-G-A
gnomAD v3:
15-89802104-G-A
gnomAD v4:
15-89802104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89802104G>A , CM000677.2:g.89802104G>A | GRCh38 |
| NC_000015.9:g.90345335G>A , CM000677.1:g.90345335G>A | GRCh37 |
| NC_000015.8:g.88146339G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300060.7:c.1570-497C>T MANE Select | ENSP00000300060.6:n.1570-497C>T | |
| ENST00000559874.2:c.1570-497C>T | ENSP00000452934.2:n.1570-497C>T | |
| ENST00000560137.2:c.1570-497C>T | ENSP00000453413.2:n.1570-497C>T | |
| ENST00000679248.1:c.1570-497C>T | ENSP00000502886.1:n.1570-497C>T | |
| ENST00000300060.6:c.1570-497C>T | ENSP00000300060.6:n.1570-497C>T | |
| ENST00000558177.5:n.330+303C>T | ||
| ENST00000560030.1:c.393-497C>T | ENSP00000453545.1:n.393-497C>T | |
| NM_001150.2:c.1570-497C>T | NP_001141.2:n.1570-497C>T | |
| XM_005254892.3:c.1570-497C>T | XP_005254949.1:n.1570-497C>T | |
| XM_011521473.1:c.1570-497C>T | XP_011519775.1:n.1570-497C>T | |
| XM_011521474.1:c.1570-497C>T | XP_011519776.1:n.1570-497C>T | |
| XM_005254892.4:c.1570-497C>T | XP_005254949.1:n.1570-497C>T | |
| NM_001150.3:c.1570-497C>T MANE Select | NP_001141.2:n.1570-497C>T | |
| NM_001381923.1:c.1570-497C>T | NP_001368852.1:n.1570-497C>T | |
| NM_001381924.1:c.1570-497C>T | NP_001368853.1:n.1570-497C>T |