Linked Data
ClinVar Variation Id:
356773
ClinVar RCV Id:
RCV000268625
RCV000271626
RCV000325995
RCV000322523
RCV000360948
RCV000382471
RCV001613185
dbSNP Id:
rs835
gnomAD v2:
6-42665888-C-T
gnomAD v3:
6-42698150-C-T
gnomAD v4:
6-42698150-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698150C>T , CM000668.2:g.42698150C>T | GRCh38 |
| NC_000006.11:g.42665888C>T , CM000668.1:g.42665888C>T | GRCh37 |
| NC_000006.10:g.42773866C>T | NCBI36 |
| NG_009176.1:g.29471G>A | |
| NG_009176.2:g.29471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.*145G>A MANE Select | ENSP00000230381.5:n.*145G>A | |
| ENST00000230381.6:c.*145G>A | ENSP00000230381.5:n.*145G>A | |
| NM_000322.4:c.*145G>A | NP_000313.2:n.*145G>A | |
| XR_926295.3:n.2073G>A | ||
| NM_000322.5:c.*145G>A MANE Select | NP_000313.2:n.*145G>A |