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:
126471
ClinVar RCV Id:
RCV000202498
dbSNP Id:
rs515726161
PubMed:
PMID:24830047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109792664G>C , CM000674.2:g.109792664G>C | GRCh38 |
| NC_000012.11:g.110230469G>C , CM000674.1:g.110230469G>C | GRCh37 |
| NC_000012.10:g.108714852G>C | NCBI36 |
| NG_017090.1:g.45744C>G , LRG_372:g.45744C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1812C>G MANE Select | ENSP00000261740.2:p.Ile604Met | |
| ENST00000418703.7:c.1812C>G | ENSP00000406191.2:p.Ile604Met | |
| ENST00000674908.1:c.*899C>G | ENSP00000502012.1:n.*899C>G | |
| ENST00000675533.1:n.1843C>G | ||
| ENST00000675670.1:c.1812C>G | ENSP00000502135.1:p.Ile604Met | |
| ENST00000676376.1:n.1843C>G | ||
| ENST00000261740.6:c.1812C>G | ENSP00000261740.2:p.Ile604Met | |
| ENST00000418703.6:c.1812C>G | ENSP00000406191.2:p.Ile604Met | |
| ENST00000536838.1:c.1710C>G | ENSP00000444336.1:p.Ile570Met | |
| ENST00000537083.5:c.1632C>G | ENSP00000442738.1:p.Ile544Met | |
| ENST00000538125.5:c.*195C>G | ENSP00000437449.1:n.*195C>G | |
| ENST00000541794.5:c.1671C>G | ENSP00000442167.1:p.Ile557Met | |
| ENST00000544971.5:c.1491C>G | ENSP00000443611.1:p.Ile497Met | |
| NM_001177428.1:c.1671C>G | NP_001170899.1:p.Ile557Met | |
| NM_001177431.1:c.1710C>G | NP_001170902.1:p.Ile570Met | |
| NM_001177433.1:c.1491C>G | NP_001170904.1:p.Ile497Met | |
| NM_021625.4:c.1812C>G , LRG_372t1:c.1812C>G | NP_067638.3:p.Ile604Met | |
| NM_147204.2:c.1632C>G | NP_671737.1:p.Ile544Met | |
| XM_005253918.1:c.1812C>G | XP_005253975.1:p.Ile604Met | |
| XM_011538630.1:c.1812C>G | XP_011536932.1:p.Ile604Met | |
| XM_011538631.1:c.1671C>G | XP_011536933.1:p.Ile557Met | |
| XM_011538632.1:c.1632C>G | XP_011536934.1:p.Ile544Met | |
| XM_011538633.1:c.1491C>G | XP_011536935.1:p.Ile497Met | |
| XM_011538634.1:c.1812C>G | XP_011536936.1:p.Ile604Met | |
| XM_011538635.1:c.1965C>G | XP_011536937.1:p.Ile655Met | |
| XM_011538630.2:c.1965C>G | XP_011536932.2:p.Ile655Met | |
| XM_011538631.2:c.1824C>G | XP_011536933.2:p.Ile608Met | |
| XM_011538632.2:c.1785C>G | XP_011536934.2:p.Ile595Met | |
| XM_011538633.2:c.1644C>G | XP_011536935.2:p.Ile548Met | |
| XM_011538634.2:c.1965C>G | XP_011536936.2:p.Ile655Met | |
| XM_011538635.2:c.1965C>G | XP_011536937.1:p.Ile655Met | |
| XM_017019774.1:c.1812C>G | XP_016875263.1:p.Ile604Met | |
| NM_021625.5:c.1812C>G MANE Select | NP_067638.3:p.Ile604Met |