UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
92290
dbSNP Id:
rs398123092
ExAC:
17:7125494 A / C
gnomAD v2:
17-7125494-A-C
gnomAD v3:
17-7222175-A-C
gnomAD v4:
17-7222175-A-C
PubMed:
PMID:9973285
PMID:10077518
PMID:10738914
PMID:16488171
PMID:17999356
PMID:25525159
PMID:26385305
ERepo:
CA220220/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222175A>C , CM000679.2:g.7222175A>C | GRCh38 |
| NC_000017.10:g.7125494A>C , CM000679.1:g.7125494A>C | GRCh37 |
| NC_000017.9:g.7066218A>C | NCBI36 |
| NG_007975.1:g.7342A>C | |
| NG_008391.2:g.2876T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.753-2A>C MANE Select | ENSP00000349297.5:n.753-2A>C | |
| ENST00000322910.9:c.*708-2A>C | ENSP00000325395.5:n.*708-2A>C | |
| ENST00000350303.9:c.687-2A>C | ENSP00000344152.5:n.687-2A>C | |
| ENST00000356839.9:c.753-2A>C | ENSP00000349297.5:n.753-2A>C | |
| ENST00000543245.6:c.822-2A>C | ENSP00000438689.2:n.822-2A>C | |
| ENST00000577191.5:n.923A>C | ||
| ENST00000581378.5:c.471-2A>C | ||
| ENST00000582379.1:n.137-2A>C | ||
| NM_000018.3:c.753-2A>C | NP_000009.1:n.753-2A>C | |
| NM_001033859.2:c.687-2A>C | NP_001029031.1:n.687-2A>C | |
| NM_001270447.1:c.822-2A>C | NP_001257376.1:n.822-2A>C | |
| NM_001270448.1:c.525-2A>C | NP_001257377.1:n.525-2A>C | |
| XM_006721516.2:c.753-2A>C | XP_006721579.2:n.753-2A>C | |
| XM_011523829.1:c.753-2A>C | XP_011522131.1:n.753-2A>C | |
| XM_011523830.1:c.753-2A>C | XP_011522132.1:n.753-2A>C | |
| XR_934021.1:n.860-2A>C | ||
| XR_934022.1:n.860-2A>C | ||
| XR_934023.1:n.860-2A>C | ||
| XM_006721516.3:c.753-2A>C | XP_006721579.2:n.753-2A>C | |
| XM_011523829.2:c.753-2A>C | XP_011522131.1:n.753-2A>C | |
| XM_011523830.2:c.753-2A>C | XP_011522132.1:n.753-2A>C | |
| XM_024450741.1:c.753-2A>C | XP_024306509.1:n.753-2A>C | |
| XR_934021.2:n.812-2A>C | ||
| XR_934022.2:n.812-2A>C | ||
| XR_934023.2:n.812-2A>C | ||
| NM_000018.4:c.753-2A>C MANE Select | NP_000009.1:n.753-2A>C | |
| NM_001033859.3:c.687-2A>C | NP_001029031.1:n.687-2A>C | |
| NM_001270447.2:c.822-2A>C | NP_001257376.1:n.822-2A>C | |
| NM_001270448.2:c.525-2A>C | NP_001257377.1:n.525-2A>C |