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:
1581991
ClinVar RCV Id:
RCV002111079
dbSNP Id:
rs771112492
gnomAD v2:
5-131729399-C-T
gnomAD v4:
5-132393707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393707C>T , CM000667.2:g.132393707C>T | GRCh38 |
| NC_000005.9:g.131729399C>T , CM000667.1:g.131729399C>T | GRCh37 |
| NC_000005.8:g.131757298C>T | NCBI36 |
| NG_008982.1:g.28999C>T | |
| NG_008982.2:g.29004C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1292-478C>T | ENSP00000388838.2:n.1292-478C>T | |
| ENST00000435065.7:c.1554C>T | ENSP00000402760.2:p.Leu518= | |
| ENST00000448810.6:c.*334C>T | ENSP00000401860.2:n.*334C>T | |
| ENST00000685543.1:n.1623C>T | ||
| ENST00000686757.1:c.*646C>T | ENSP00000510721.1:n.*646C>T | |
| ENST00000686868.1:n.474C>T | ||
| ENST00000687740.1:n.4167C>T | ||
| ENST00000688151.1:n.2792C>T | ||
| ENST00000689271.1:c.1329C>T | ENSP00000510797.1:p.Leu443= | |
| ENST00000690900.1:c.*646C>T | ENSP00000510703.1:n.*646C>T | |
| ENST00000692212.1:n.4622C>T | ||
| ENST00000692355.1:c.735C>T | ||
| ENST00000692413.1:c.1464C>T | ENSP00000509374.1:p.Leu488= | |
| ENST00000692825.1:c.1550C>T | ENSP00000509447.1:n.1550C>T | |
| ENST00000693308.1:c.1530C>T | ENSP00000509770.1:p.Leu510= | |
| ENST00000693763.1:n.2642C>T | ||
| ENST00000245407.8:c.1482C>T MANE Select | ENSP00000245407.3:p.Leu494= | |
| ENST00000245407.7:c.1482C>T | ENSP00000245407.3:p.Leu494= | |
| ENST00000435065.6:c.1554C>T | ENSP00000402760.2:p.Leu518= | |
| ENST00000447841.5:c.326C>T | ||
| ENST00000448810.5:c.744C>T | ||
| ENST00000461013.5:n.8904C>T | ||
| ENST00000475308.1:n.2160C>T | ||
| NM_001308122.1:c.1554C>T | NP_001295051.1:p.Leu518= | |
| NM_003060.3:c.1482C>T | NP_003051.1:p.Leu494= | |
| XM_011543590.1:c.864C>T | XP_011541892.1:p.Leu288= | |
| XR_948290.1:n.1608C>T | ||
| XM_011543590.2:c.864C>T | XP_011541892.1:p.Leu288= | |
| XM_017009778.2:c.954C>T | XP_016865267.1:p.Leu318= | |
| XR_001742215.1:n.1737C>T | ||
| XR_001742216.1:n.1756C>T | ||
| XR_427718.2:n.1842C>T | ||
| XR_948290.2:n.1608C>T | ||
| XR_948291.2:n.1836C>T | ||
| NM_003060.4:c.1482C>T MANE Select | NP_003051.1:p.Leu494= | |
| NM_001308122.2:c.1554C>T | NP_001295051.1:p.Leu518= |