Linked Data
ClinVar Variation Id:
16158
ClinVar RCV Id:
RCV000017541
dbSNP Id:
rs121909727
PubMed:
PMID:17635946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143282014A>G , CM000667.2:g.143282014A>G | GRCh38 |
| NC_000005.9:g.142661579A>G , CM000667.1:g.142661579A>G | GRCh37 |
| NC_000005.8:g.142641772A>G | NCBI36 |
| NG_009062.1:g.158499T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394464.7:c.2209T>C MANE Select | ENSP00000377977.2:p.Phe737Leu | |
| ENST00000652686.1:c.2116T>C | ENSP00000498663.1:p.Phe706Leu | |
| ENST00000231509.7:c.2212T>C | ENSP00000231509.3:p.Phe738Leu | |
| ENST00000343796.6:c.2209T>C | ENSP00000343205.2:p.Phe737Leu | |
| ENST00000394464.6:c.2209T>C | ENSP00000377977.2:p.Phe737Leu | |
| ENST00000394466.6:c.2212T>C | ENSP00000377979.2:p.Phe738Leu | |
| ENST00000415690.6:c.2181+554T>C | ENSP00000387672.2:n.2181+554T>C | |
| ENST00000424646.6:c.2131T>C | ENSP00000405282.2:p.Phe711Leu | |
| ENST00000503201.1:c.2209T>C | ENSP00000427672.1:p.Phe737Leu | |
| ENST00000504572.5:c.2212T>C | ENSP00000422518.1:p.Phe738Leu | |
| NM_000176.2:c.2209T>C | NP_000167.1:p.Phe737Leu | |
| NM_001018074.1:c.2209T>C | NP_001018084.1:p.Phe737Leu | |
| NM_001018075.1:c.2209T>C | NP_001018085.1:p.Phe737Leu | |
| NM_001018076.1:c.2209T>C | NP_001018086.1:p.Phe737Leu | |
| NM_001018077.1:c.2209T>C | NP_001018087.1:p.Phe737Leu | |
| NM_001020825.1:c.2181+554T>C | NP_001018661.1:n.2181+554T>C | |
| NM_001024094.1:c.2212T>C | NP_001019265.1:p.Phe738Leu | |
| NM_001204258.1:c.2131T>C | NP_001191187.1:p.Phe711Leu | |
| NM_001204259.1:c.1954T>C | NP_001191188.1:p.Phe652Leu | |
| NM_001204260.1:c.1942T>C | NP_001191189.1:p.Phe648Leu | |
| NM_001204261.1:c.1918T>C | NP_001191190.1:p.Phe640Leu | |
| NM_001204262.1:c.1264T>C | NP_001191191.1:p.Phe422Leu | |
| NM_001204263.1:c.1219T>C | NP_001191192.1:p.Phe407Leu | |
| NM_001204264.1:c.1204T>C | NP_001191193.1:p.Phe402Leu | |
| XM_005268419.2:c.2212T>C | XP_005268476.1:p.Phe738Leu | |
| XM_005268420.3:c.2212T>C | XP_005268477.1:p.Phe738Leu | |
| XM_005268422.2:c.2212T>C | XP_005268479.1:p.Phe738Leu | |
| XM_005268423.2:c.2212T>C | XP_005268480.1:p.Phe738Leu | |
| XM_011537637.1:c.1018T>C | XP_011535939.1:p.Phe340Leu | |
| XR_944371.1:n.656-2685A>G | ||
| NR_157096.1:n.1132T>C | ||
| XM_005268419.4:c.2212T>C | XP_005268476.1:p.Phe738Leu | |
| XM_005268420.4:c.2212T>C | XP_005268477.1:p.Phe738Leu | |
| XM_005268422.3:c.2212T>C | XP_005268479.1:p.Phe738Leu | |
| XM_005268423.3:c.2212T>C | XP_005268480.1:p.Phe738Leu | |
| XM_011537637.3:c.1018T>C | XP_011535939.1:p.Phe340Leu | |
| XM_017009397.1:c.2209T>C | XP_016864886.1:p.Phe737Leu | |
| XM_017009398.1:c.2209T>C | XP_016864887.1:p.Phe737Leu | |
| NM_000176.3:c.2209T>C MANE Select | NP_000167.1:p.Phe737Leu | |
| NM_001364180.1:c.2209T>C | NP_001351109.1:p.Phe737Leu | |
| NM_001364181.1:c.2209T>C | NP_001351110.1:p.Phe737Leu | |
| NM_001364182.1:c.2209T>C | NP_001351111.1:p.Phe737Leu | |
| NM_001364183.1:c.2212T>C | NP_001351112.1:p.Phe738Leu | |
| NM_001364184.1:c.2212T>C | NP_001351113.1:p.Phe738Leu | |
| NM_001364185.1:c.2212T>C | NP_001351114.1:p.Phe738Leu | |
| NM_001018076.2:c.2209T>C | NP_001018086.1:p.Phe737Leu | |
| NM_001020825.2:c.2181+554T>C | NP_001018661.1:n.2181+554T>C | |
| NM_001024094.2:c.2212T>C | NP_001019265.1:p.Phe738Leu | |
| NM_001204258.2:c.2131T>C | NP_001191187.1:p.Phe711Leu | |
| NM_001204259.2:c.1954T>C | NP_001191188.1:p.Phe652Leu | |
| NM_001204260.2:c.1942T>C | NP_001191189.1:p.Phe648Leu | |
| NM_001204261.2:c.1918T>C | NP_001191190.1:p.Phe640Leu | |
| NM_001204262.2:c.1264T>C | NP_001191191.1:p.Phe422Leu | |
| NM_001204263.2:c.1219T>C | NP_001191192.1:p.Phe407Leu | |
| NM_001204264.2:c.1204T>C | NP_001191193.1:p.Phe402Leu | |
| NM_001364180.2:c.2209T>C | NP_001351109.1:p.Phe737Leu | |
| NM_001364181.2:c.2209T>C | NP_001351110.1:p.Phe737Leu | |
| NM_001364183.2:c.2212T>C | NP_001351112.1:p.Phe738Leu | |
| NM_001364184.2:c.2212T>C | NP_001351113.1:p.Phe738Leu | |
| NR_157096.2:n.1132T>C |