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:
13196
ClinVar RCV Id:
RCV000014083
dbSNP Id:
rs121918376
ExAC:
17:79892987 G / C
gnomAD v2:
17-79892987-G-C
gnomAD v4:
17-81935111-G-C
PubMed:
PMID:19648921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81935111G>C , CM000679.2:g.81935111G>C | GRCh38 |
| NC_000017.10:g.79892987G>C , CM000679.1:g.79892987G>C | GRCh37 |
| NC_000017.9:g.77486278G>C | NCBI36 |
| NG_023032.1:g.6982C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329875.13:c.355C>G MANE Select | ENSP00000328858.8:p.Arg119Gly | |
| ENST00000329875.12:c.355C>G | ENSP00000328858.8:p.Arg119Gly | |
| ENST00000337943.9:c.355C>G | ENSP00000336579.5:p.Arg119Gly | |
| ENST00000402252.6:c.436C>G | ENSP00000384949.2:p.Arg146Gly | |
| ENST00000403172.8:c.355C>G | ENSP00000385483.4:p.Arg119Gly | |
| ENST00000405481.8:c.355C>G | ENSP00000386002.4:p.Arg119Gly | |
| ENST00000577624.5:c.172C>G | ENSP00000464098.1:p.Arg58Gly | |
| ENST00000577756.5:c.355C>G | ENSP00000463352.1:p.Arg119Gly | |
| ENST00000579366.5:c.265C>G | ENSP00000462398.1:p.Arg89Gly | |
| ENST00000579698.5:c.355C>G | ENSP00000463601.1:p.Arg119Gly | |
| ENST00000582198.5:c.265C>G | ENSP00000463226.1:p.Arg89Gly | |
| ENST00000584848.5:c.316C>G | ENSP00000463342.1:p.Arg106Gly | |
| ENST00000585215.5:c.355C>G | ENSP00000463343.1:p.Arg119Gly | |
| ENST00000619204.4:c.355C>G | ENSP00000479793.1:p.Arg119Gly | |
| ENST00000629768.2:c.355C>G | ENSP00000485679.1:p.Arg119Gly | |
| NM_001282279.1:c.355C>G | NP_001269208.1:p.Arg119Gly | |
| NM_001282280.1:c.355C>G | NP_001269209.1:p.Arg119Gly | |
| NM_001282281.1:c.436C>G | NP_001269210.1:p.Arg146Gly | |
| NM_006907.3:c.355C>G | NP_008838.2:p.Arg119Gly | |
| NM_153824.2:c.355C>G | NP_722546.1:p.Arg119Gly | |
| XM_005256381.1:c.355C>G | XP_005256438.1:p.Arg119Gly | |
| XM_011523583.1:c.355C>G | XP_011521885.1:p.Arg119Gly | |
| XM_011523584.1:c.355C>G | XP_011521886.1:p.Arg119Gly | |
| XM_011523585.1:c.436C>G | XP_011521887.1:p.Arg146Gly | |
| NM_001330523.1:c.355C>G | NP_001317452.1:p.Arg119Gly | |
| XM_005256381.2:c.355C>G | XP_005256438.1:p.Arg119Gly | |
| XM_011523583.2:c.355C>G | XP_011521885.1:p.Arg119Gly | |
| XM_011523584.3:c.355C>G | XP_011521886.1:p.Arg119Gly | |
| XM_011523585.2:c.436C>G | XP_011521887.1:p.Arg146Gly | |
| XM_024450849.1:c.355C>G | XP_024306617.1:p.Arg119Gly | |
| NM_001282279.2:c.355C>G | NP_001269208.1:p.Arg119Gly | |
| NM_001282281.2:c.436C>G | NP_001269210.1:p.Arg146Gly | |
| NM_006907.4:c.355C>G MANE Select | NP_008838.2:p.Arg119Gly | |
| NM_153824.3:c.355C>G | NP_722546.1:p.Arg119Gly | |
| NM_001282280.2:c.355C>G | NP_001269209.1:p.Arg119Gly | |
| NM_001330523.2:c.355C>G | NP_001317452.1:p.Arg119Gly |