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:
2851082
ClinVar RCV Id:
RCV003623243
dbSNP Id:
rs752661478
ExAC:
19:17949108 C / T
gnomAD v2:
19-17949108-C-T
CIViC:
CA9301867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17838299C>T , CM000681.2:g.17838299C>T | GRCh38 |
| NC_000019.9:g.17949108C>T , CM000681.1:g.17949108C>T | GRCh37 |
| NC_000019.8:g.17810108C>T | NCBI36 |
| NG_007273.1:g.14693G>A , LRG_77:g.14693G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526008.6:c.*90G>A | ENSP00000513006.1:n.*90G>A | |
| ENST00000696967.1:n.710G>A | ||
| ENST00000696970.1:n.188G>A | ||
| ENST00000458235.7:c.1533G>A MANE Select | ENSP00000391676.1:p.Met511Ile | |
| ENST00000458235.5:c.1533G>A | ENSP00000391676.1:p.Met511Ile | |
| ENST00000526008.5:n.1747G>A | ||
| ENST00000527031.5:n.1623G>A | ||
| ENST00000527670.5:c.1533G>A | ENSP00000432511.1:p.Met511Ile | |
| ENST00000534444.1:c.1533G>A | ENSP00000436421.1:p.Met511Ile | |
| NM_000215.3:c.1533G>A , LRG_77t1:c.1533G>A | NP_000206.2:p.Met511Ile | |
| XM_005259896.2:c.1662G>A | XP_005259953.1:p.Met554Ile | |
| XM_006722745.2:c.1533G>A | XP_006722808.1:p.Met511Ile | |
| XM_011527990.1:c.1662G>A | XP_011526292.1:p.Met554Ile | |
| XM_011527991.1:c.1662G>A | XP_011526293.1:p.Met554Ile | |
| XR_430137.2:n.1672G>A | ||
| XM_005259896.3:c.1662G>A | XP_005259953.1:p.Met554Ile | |
| XM_011527991.2:c.1662G>A | XP_011526293.1:p.Met554Ile | |
| NM_000215.4:c.1533G>A MANE Select | NP_000206.2:p.Met511Ile |