Linked Data
dbSNP Id:
rs576131820
gnomAD v2:
17-64437937-C-T
gnomAD v3:
17-66441819-C-T
gnomAD v4:
17-66441819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66441819C>T , CM000679.2:g.66441819C>T | GRCh38 |
| NC_000017.10:g.64437937C>T , CM000679.1:g.64437937C>T | GRCh37 |
| NC_000017.9:g.61868399C>T | NCBI36 |
| NG_012206.1:g.144012C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413366.8:c.206-54382C>T MANE Select | ENSP00000408695.3:n.206-54382C>T | |
| ENST00000284384.6:c.198-54382C>T | ||
| ENST00000413366.7:c.206-54382C>T | ENSP00000408695.3:n.206-54382C>T | |
| ENST00000578063.5:c.206-54382C>T | ENSP00000462087.1:n.206-54382C>T | |
| NM_002737.2:c.206-54382C>T | NP_002728.1:n.206-54382C>T | |
| XM_011524990.1:c.206-54382C>T | XP_011523292.1:n.206-54382C>T | |
| XM_011524991.1:c.206-54382C>T | XP_011523293.1:n.206-54382C>T | |
| XM_011524992.1:c.206-54382C>T | XP_011523294.1:n.206-54382C>T | |
| XM_017024836.2:c.206-54382C>T | XP_016880325.1:n.206-54382C>T | |
| XM_017024841.1:c.206-54382C>T | XP_016880330.1:n.206-54382C>T | |
| XR_001752558.1:n.418-54382C>T | ||
| NM_002737.3:c.206-54382C>T MANE Select | NP_002728.2:n.206-54382C>T |