Linked Data
ClinVar Variation Id:
178663
ClinVar RCV Id:
RCV000155420
RCV000335229
RCV000280194
RCV000341167
RCV000403779
RCV000757094
RCV002277311
RCV003927512
dbSNP Id:
rs2229790
ExAC:
6:33132230 C / G
gnomAD v2:
6-33132230-C-G
gnomAD v3:
6-33164453-C-G
gnomAD v4:
6-33164453-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164453C>G , CM000668.2:g.33164453C>G | GRCh38 |
| NC_000006.11:g.33132230C>G , CM000668.1:g.33132230C>G | GRCh37 |
| NC_000006.10:g.33240208C>G | NCBI36 |
| NG_011589.1:g.33016G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.690G>C | ||
| ENST00000341947.7:c.4884G>C MANE Select | ENSP00000339915.2:p.Glu1628Asp | |
| ENST00000341947.6:c.4884G>C | ENSP00000339915.2:p.Glu1628Asp | |
| ENST00000361917.5:c.4563G>C | ENSP00000355123.1:p.Glu1521Asp | |
| ENST00000374708.8:c.4626G>C | ENSP00000363840.4:p.Glu1542Asp | |
| ENST00000477772.1:n.674G>C | ||
| NM_080679.2:c.4563G>C | NP_542410.2:p.Glu1521Asp | |
| NM_080680.2:c.4884G>C | NP_542411.2:p.Glu1628Asp | |
| NM_080681.2:c.4626G>C | NP_542412.2:p.Glu1542Asp | |
| XM_011514298.1:c.4038G>C | XP_011512600.1:p.Glu1346Asp | |
| XM_011514299.1:c.4170G>C | XP_011512601.1:p.Glu1390Asp | |
| XM_011514300.1:c.3990G>C | XP_011512602.1:p.Glu1330Asp | |
| XM_011514301.1:c.3927G>C | XP_011512603.1:p.Glu1309Asp | |
| XM_011514302.1:c.3771G>C | XP_011512604.1:p.Glu1257Asp | |
| XM_011514299.2:c.4170G>C | XP_011512601.1:p.Glu1390Asp | |
| XM_011514300.2:c.3990G>C | XP_011512602.1:p.Glu1330Asp | |
| XM_011514302.2:c.3771G>C | XP_011512604.1:p.Glu1257Asp | |
| XM_017010250.1:c.4884G>C | XP_016865739.1:p.Glu1628Asp | |
| XM_017010251.2:c.3702G>C | XP_016865740.1:p.Glu1234Asp | |
| NM_080680.3:c.4884G>C MANE Select | NP_542411.2:p.Glu1628Asp | |
| NM_080681.3:c.4626G>C | NP_542412.2:p.Glu1542Asp | |
| NM_080679.3:c.4563G>C | NP_542410.2:p.Glu1521Asp |