Linked Data
dbSNP Id:
rs775620263
ExAC:
4:102839189 C / T
gnomAD v2:
4-102839189-C-T
gnomAD v4:
4-101918032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101918032C>T , CM000666.2:g.101918032C>T | GRCh38 |
| NC_000004.11:g.102839189C>T , CM000666.1:g.102839189C>T | GRCh37 |
| NC_000004.10:g.103058212C>T | NCBI36 |
| NG_015824.1:g.132426C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322953.9:c.1049C>T MANE Select | ENSP00000320509.4:p.Ala350Val | |
| ENST00000322953.8:c.1049C>T | ENSP00000320509.4:p.Ala350Val | |
| ENST00000428908.5:c.650C>T | ENSP00000412748.1:p.Ala217Val | |
| ENST00000444316.2:c.959C>T | ENSP00000388817.2:p.Ala320Val | |
| ENST00000504592.5:c.1004C>T | ENSP00000421443.1:p.Ala335Val | |
| ENST00000508653.5:c.650C>T | ENSP00000422314.1:p.Ala217Val | |
| NM_001083907.2:c.959C>T | NP_001077376.2:p.Ala320Val | |
| NM_001127507.2:c.650C>T | NP_001120979.2:p.Ala217Val | |
| NM_017935.4:c.1049C>T | NP_060405.4:p.Ala350Val | |
| XM_017008337.2:c.959C>T | XP_016863826.1:p.Ala320Val | |
| NM_017935.5:c.1049C>T MANE Select | NP_060405.5:p.Ala350Val | |
| NM_001083907.3:c.959C>T | NP_001077376.3:p.Ala320Val | |
| NM_001127507.3:c.650C>T | NP_001120979.3:p.Ala217Val |