Linked Data
dbSNP Id:
rs550977861
ExAC:
6:33132636 A / G
gnomAD v2:
6-33132636-A-G
gnomAD v4:
6-33164859-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164859A>G , CM000668.2:g.33164859A>G | GRCh38 |
| NC_000006.11:g.33132636A>G , CM000668.1:g.33132636A>G | GRCh37 |
| NC_000006.10:g.33240614A>G | NCBI36 |
| NG_011589.1:g.32610T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683572.1:n.662T>C | ||
| ENST00000341947.7:c.4856T>C MANE Select | ENSP00000339915.2:p.Val1619Ala | |
| ENST00000341947.6:c.4856T>C | ENSP00000339915.2:p.Val1619Ala | |
| ENST00000361917.5:c.4535T>C | ENSP00000355123.1:p.Val1512Ala | |
| ENST00000374708.8:c.4598T>C | ENSP00000363840.4:p.Val1533Ala | |
| ENST00000477772.1:n.646T>C | ||
| NM_080679.2:c.4535T>C | NP_542410.2:p.Val1512Ala | |
| NM_080680.2:c.4856T>C | NP_542411.2:p.Val1619Ala | |
| NM_080681.2:c.4598T>C | NP_542412.2:p.Val1533Ala | |
| XM_011514298.1:c.4010T>C | XP_011512600.1:p.Val1337Ala | |
| XM_011514299.1:c.4142T>C | XP_011512601.1:p.Val1381Ala | |
| XM_011514300.1:c.3962T>C | XP_011512602.1:p.Val1321Ala | |
| XM_011514301.1:c.3899T>C | XP_011512603.1:p.Val1300Ala | |
| XM_011514302.1:c.3743T>C | XP_011512604.1:p.Val1248Ala | |
| XM_011514299.2:c.4142T>C | XP_011512601.1:p.Val1381Ala | |
| XM_011514300.2:c.3962T>C | XP_011512602.1:p.Val1321Ala | |
| XM_011514302.2:c.3743T>C | XP_011512604.1:p.Val1248Ala | |
| XM_017010250.1:c.4856T>C | XP_016865739.1:p.Val1619Ala | |
| XM_017010251.2:c.3674T>C | XP_016865740.1:p.Val1225Ala | |
| NM_080680.3:c.4856T>C MANE Select | NP_542411.2:p.Val1619Ala | |
| NM_080681.3:c.4598T>C | NP_542412.2:p.Val1533Ala | |
| NM_080679.3:c.4535T>C | NP_542410.2:p.Val1512Ala |