Linked Data
ClinVar Variation Id:
432630
ClinVar RCV Id:
RCV000497704
dbSNP Id:
rs140553708
gnomAD v2:
6-33132737-C-G
gnomAD v3:
6-33164960-C-G
gnomAD v4:
6-33164960-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164960C>G , CM000668.2:g.33164960C>G | GRCh38 |
| NC_000006.11:g.33132737C>G , CM000668.1:g.33132737C>G | GRCh37 |
| NC_000006.10:g.33240715C>G | NCBI36 |
| NG_011589.1:g.32509G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.561G>C | ||
| ENST00000341947.7:c.4755G>C MANE Select | ENSP00000339915.2:p.Glu1585Asp | |
| ENST00000341947.6:c.4755G>C | ENSP00000339915.2:p.Glu1585Asp | |
| ENST00000361917.5:c.4434G>C | ENSP00000355123.1:p.Glu1478Asp | |
| ENST00000374708.8:c.4497G>C | ENSP00000363840.4:p.Glu1499Asp | |
| ENST00000477772.1:n.545G>C | ||
| NM_080679.2:c.4434G>C | NP_542410.2:p.Glu1478Asp | |
| NM_080680.2:c.4755G>C | NP_542411.2:p.Glu1585Asp | |
| NM_080681.2:c.4497G>C | NP_542412.2:p.Glu1499Asp | |
| XM_011514298.1:c.3909G>C | XP_011512600.1:p.Glu1303Asp | |
| XM_011514299.1:c.4041G>C | XP_011512601.1:p.Glu1347Asp | |
| XM_011514300.1:c.3861G>C | XP_011512602.1:p.Glu1287Asp | |
| XM_011514301.1:c.3798G>C | XP_011512603.1:p.Glu1266Asp | |
| XM_011514302.1:c.3642G>C | XP_011512604.1:p.Glu1214Asp | |
| XM_011514299.2:c.4041G>C | XP_011512601.1:p.Glu1347Asp | |
| XM_011514300.2:c.3861G>C | XP_011512602.1:p.Glu1287Asp | |
| XM_011514302.2:c.3642G>C | XP_011512604.1:p.Glu1214Asp | |
| XM_017010250.1:c.4755G>C | XP_016865739.1:p.Glu1585Asp | |
| XM_017010251.2:c.3573G>C | XP_016865740.1:p.Glu1191Asp | |
| NM_080680.3:c.4755G>C MANE Select | NP_542411.2:p.Glu1585Asp | |
| NM_080681.3:c.4497G>C | NP_542412.2:p.Glu1499Asp | |
| NM_080679.3:c.4434G>C | NP_542410.2:p.Glu1478Asp |