Linked Data
ClinVar Variation Id:
204296
ClinVar RCV Id:
RCV000186500
dbSNP Id:
rs796052094
gnomAD v4:
6-75102655-C-T
PubMed:
PMID:24334769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75102655C>T , CM000668.2:g.75102655C>T | GRCh38 |
| NC_000006.11:g.75812371C>T , CM000668.1:g.75812371C>T | GRCh37 |
| NC_000006.10:g.75869091C>T | NCBI36 |
| NG_042181.1:g.108253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.8357G>A MANE Select | ENSP00000325146.8:p.Gly2786Asp | |
| ENST00000322507.12:c.8357G>A | ENSP00000325146.8:p.Gly2786Asp | |
| ENST00000345356.10:c.4865G>A | ENSP00000305147.9:p.Gly1622Asp | |
| ENST00000416123.6:c.8129G>A | ENSP00000412864.2:p.Gly2710Asp | |
| ENST00000425443.6:c.1271G>A | ENSP00000399812.2:p.Gly424Asp | |
| ENST00000483888.6:c.8357G>A | ENSP00000421216.1:p.Gly2786Asp | |
| ENST00000615798.4:c.4790G>A | ENSP00000483232.1:p.Gly1597Asp | |
| NM_004370.5:c.8357G>A | NP_004361.3:p.Gly2786Asp | |
| NM_080645.2:c.4865G>A | NP_542376.2:p.Gly1622Asp | |
| XM_011535434.1:c.8357G>A | XP_011533736.1:p.Gly2786Asp | |
| XM_011535435.1:c.8084G>A | XP_011533737.1:p.Gly2695Asp | |
| XM_011535436.1:c.4865G>A | XP_011533738.1:p.Gly1622Asp | |
| XM_011535436.2:c.4865G>A | XP_011533738.1:p.Gly1622Asp | |
| XM_017010252.2:c.8321G>A | XP_016865741.1:p.Gly2774Asp | |
| NM_004370.6:c.8357G>A MANE Select | NP_004361.3:p.Gly2786Asp | |
| NM_080645.3:c.4865G>A | NP_542376.2:p.Gly1622Asp |