Linked Data
ClinVar Variation Id:
2712562
ClinVar RCV Id:
RCV003548016
dbSNP Id:
rs771029067
ExAC:
6:33132728 G / A
gnomAD v2:
6-33132728-G-A
gnomAD v3:
6-33164951-G-A
gnomAD v4:
6-33164951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164951G>A , CM000668.2:g.33164951G>A | GRCh38 |
| NC_000006.11:g.33132728G>A , CM000668.1:g.33132728G>A | GRCh37 |
| NC_000006.10:g.33240706G>A | NCBI36 |
| NG_011589.1:g.32518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.570C>T | ||
| ENST00000341947.7:c.4764C>T MANE Select | ENSP00000339915.2:p.Val1588= | |
| ENST00000341947.6:c.4764C>T | ENSP00000339915.2:p.Val1588= | |
| ENST00000361917.5:c.4443C>T | ENSP00000355123.1:p.Val1481= | |
| ENST00000374708.8:c.4506C>T | ENSP00000363840.4:p.Val1502= | |
| ENST00000477772.1:n.554C>T | ||
| NM_080679.2:c.4443C>T | NP_542410.2:p.Val1481= | |
| NM_080680.2:c.4764C>T | NP_542411.2:p.Val1588= | |
| NM_080681.2:c.4506C>T | NP_542412.2:p.Val1502= | |
| XM_011514298.1:c.3918C>T | XP_011512600.1:p.Val1306= | |
| XM_011514299.1:c.4050C>T | XP_011512601.1:p.Val1350= | |
| XM_011514300.1:c.3870C>T | XP_011512602.1:p.Val1290= | |
| XM_011514301.1:c.3807C>T | XP_011512603.1:p.Val1269= | |
| XM_011514302.1:c.3651C>T | XP_011512604.1:p.Val1217= | |
| XM_011514299.2:c.4050C>T | XP_011512601.1:p.Val1350= | |
| XM_011514300.2:c.3870C>T | XP_011512602.1:p.Val1290= | |
| XM_011514302.2:c.3651C>T | XP_011512604.1:p.Val1217= | |
| XM_017010250.1:c.4764C>T | XP_016865739.1:p.Val1588= | |
| XM_017010251.2:c.3582C>T | XP_016865740.1:p.Val1194= | |
| NM_080680.3:c.4764C>T MANE Select | NP_542411.2:p.Val1588= | |
| NM_080681.3:c.4506C>T | NP_542412.2:p.Val1502= | |
| NM_080679.3:c.4443C>T | NP_542410.2:p.Val1481= |