Linked Data
ClinVar Variation Id:
46562
ClinVar RCV Id:
RCV000039832
RCV000261448
RCV000283893
RCV000322266
RCV000318977
RCV001521763
RCV001582523
RCV001582524
dbSNP Id:
rs2229785
ExAC:
6:33141161 A / G
gnomAD v2:
6-33141161-A-G
gnomAD v3:
6-33173384-A-G
gnomAD v4:
6-33173384-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33173384A>G , CM000668.2:g.33173384A>G | GRCh38 |
| NC_000006.11:g.33141161A>G , CM000668.1:g.33141161A>G | GRCh37 |
| NC_000006.10:g.33249139A>G | NCBI36 |
| NG_011589.1:g.24085T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1273T>C | ||
| ENST00000341947.7:c.2700T>C MANE Select | ENSP00000339915.2:p.Asp900= | |
| ENST00000341947.6:c.2700T>C | ENSP00000339915.2:p.Asp900= | |
| ENST00000361917.5:c.2379T>C | ENSP00000355123.1:p.Asp793= | |
| ENST00000374708.8:c.2442T>C | ENSP00000363840.4:p.Asp814= | |
| ENST00000477772.1:n.272+3625T>C | ||
| NM_080679.2:c.2379T>C | NP_542410.2:p.Asp793= | |
| NM_080680.2:c.2700T>C | NP_542411.2:p.Asp900= | |
| NM_080681.2:c.2442T>C | NP_542412.2:p.Asp814= | |
| XM_011514298.1:c.1854T>C | XP_011512600.1:p.Asp618= | |
| XM_011514299.1:c.1986T>C | XP_011512601.1:p.Asp662= | |
| XM_011514300.1:c.1806T>C | XP_011512602.1:p.Asp602= | |
| XM_011514301.1:c.1743T>C | XP_011512603.1:p.Asp581= | |
| XM_011514302.1:c.1587T>C | XP_011512604.1:p.Asp529= | |
| XM_011514299.2:c.1986T>C | XP_011512601.1:p.Asp662= | |
| XM_011514300.2:c.1806T>C | XP_011512602.1:p.Asp602= | |
| XM_011514302.2:c.1587T>C | XP_011512604.1:p.Asp529= | |
| XM_017010250.1:c.2700T>C | XP_016865739.1:p.Asp900= | |
| XM_017010251.2:c.1518T>C | XP_016865740.1:p.Asp506= | |
| NM_080680.3:c.2700T>C MANE Select | NP_542411.2:p.Asp900= | |
| NM_080681.3:c.2442T>C | NP_542412.2:p.Asp814= | |
| NM_080679.3:c.2379T>C | NP_542410.2:p.Asp793= |