Linked Data
ClinVar Variation Id:
1381032
ClinVar RCV Id:
RCV001921846
dbSNP Id:
rs779957849
ExAC:
6:33132666 C / T
gnomAD v2:
6-33132666-C-T
gnomAD v3:
6-33164889-C-T
gnomAD v4:
6-33164889-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164889C>T , CM000668.2:g.33164889C>T | GRCh38 |
| NC_000006.11:g.33132666C>T , CM000668.1:g.33132666C>T | GRCh37 |
| NC_000006.10:g.33240644C>T | NCBI36 |
| NG_011589.1:g.32580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.632G>A | ||
| ENST00000341947.7:c.4826G>A MANE Select | ENSP00000339915.2:p.Gly1609Asp | |
| ENST00000341947.6:c.4826G>A | ENSP00000339915.2:p.Gly1609Asp | |
| ENST00000361917.5:c.4505G>A | ENSP00000355123.1:p.Gly1502Asp | |
| ENST00000374708.8:c.4568G>A | ENSP00000363840.4:p.Gly1523Asp | |
| ENST00000477772.1:n.616G>A | ||
| NM_080679.2:c.4505G>A | NP_542410.2:p.Gly1502Asp | |
| NM_080680.2:c.4826G>A | NP_542411.2:p.Gly1609Asp | |
| NM_080681.2:c.4568G>A | NP_542412.2:p.Gly1523Asp | |
| XM_011514298.1:c.3980G>A | XP_011512600.1:p.Gly1327Asp | |
| XM_011514299.1:c.4112G>A | XP_011512601.1:p.Gly1371Asp | |
| XM_011514300.1:c.3932G>A | XP_011512602.1:p.Gly1311Asp | |
| XM_011514301.1:c.3869G>A | XP_011512603.1:p.Gly1290Asp | |
| XM_011514302.1:c.3713G>A | XP_011512604.1:p.Gly1238Asp | |
| XM_011514299.2:c.4112G>A | XP_011512601.1:p.Gly1371Asp | |
| XM_011514300.2:c.3932G>A | XP_011512602.1:p.Gly1311Asp | |
| XM_011514302.2:c.3713G>A | XP_011512604.1:p.Gly1238Asp | |
| XM_017010250.1:c.4826G>A | XP_016865739.1:p.Gly1609Asp | |
| XM_017010251.2:c.3644G>A | XP_016865740.1:p.Gly1215Asp | |
| NM_080680.3:c.4826G>A MANE Select | NP_542411.2:p.Gly1609Asp | |
| NM_080681.3:c.4568G>A | NP_542412.2:p.Gly1523Asp | |
| NM_080679.3:c.4505G>A | NP_542410.2:p.Gly1502Asp |