Linked Data
dbSNP Id:
rs2070565
ExAC:
21:45681153 T / C
gnomAD v2:
21-45681153-T-C
gnomAD v3:
21-44261270-T-C
gnomAD v4:
21-44261270-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44261270T>C , CM000683.2:g.44261270T>C | GRCh38 |
| NC_000021.8:g.45681153T>C , CM000683.1:g.45681153T>C | GRCh37 |
| NC_000021.7:g.44505581T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000628202.3:c.-7-4A>G MANE Select | ENSP00000486001.1:n.-7-4A>G | |
| ENST00000270172.7:c.-7-4A>G | ENSP00000270172.3:n.-7-4A>G | |
| ENST00000431166.1:c.-7-4A>G | ENSP00000400242.1:n.-7-4A>G | |
| ENST00000628202.2:c.-7-4A>G | ENSP00000486001.1:n.-7-4A>G | |
| NM_013369.3:c.-7-4A>G | NP_037501.2:n.-7-4A>G | |
| NM_175867.2:c.-7-4A>G | NP_787063.1:n.-7-4A>G | |
| XM_011529536.1:c.-7-4A>G | XP_011527838.1:n.-7-4A>G | |
| NM_013369.4:c.-7-4A>G | NP_037501.2:n.-7-4A>G | |
| NM_175867.3:c.-7-4A>G MANE Select | NP_787063.1:n.-7-4A>G |