Linked Data
ClinVar Variation Id:
10811
ClinVar RCV Id:
RCV000011558
dbSNP Id:
rs104894866
PubMed:
PMID:15558842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.10482609A>G , CM000685.2:g.10482609A>G | GRCh38 |
| NC_000023.10:g.10450649A>G , CM000685.1:g.10450649A>G | GRCh37 |
| NC_000023.9:g.10410649A>G | NCBI36 |
| NG_008197.1:g.356082T>C | |
| NG_008197.2:g.356082T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413894.6:c.884T>C | ENSP00000391154.2:p.Leu295Pro | |
| ENST00000616003.5:c.1037T>C | ENSP00000484712.1:p.Leu346Pro | |
| ENST00000687008.1:c.884T>C | ENSP00000508734.1:p.Leu295Pro | |
| ENST00000689773.1:c.770T>C | ENSP00000509925.1:p.Leu257Pro | |
| ENST00000690004.1:c.770T>C | ENSP00000509730.1:p.Leu257Pro | |
| ENST00000691943.1:c.776T>C | ENSP00000508663.1:p.Leu259Pro | |
| ENST00000317552.9:c.884T>C MANE Select | ENSP00000312678.4:p.Leu295Pro | |
| ENST00000674917.1:c.17T>C | ENSP00000502171.1:p.Leu6Pro | |
| ENST00000675073.1:c.1037T>C | ENSP00000501707.1:p.Leu346Pro | |
| ENST00000675358.1:c.17T>C | ENSP00000502220.1:p.Leu6Pro | |
| ENST00000317552.8:c.884T>C | ENSP00000312678.4:p.Leu295Pro | |
| ENST00000380779.5:c.884T>C | ENSP00000370156.1:p.Leu295Pro | |
| ENST00000380780.5:c.884T>C | ENSP00000370157.1:p.Leu295Pro | |
| ENST00000380782.6:c.884T>C | ENSP00000370159.1:p.Leu295Pro | |
| ENST00000380785.5:c.884T>C | ENSP00000370162.1:p.Leu295Pro | |
| ENST00000380787.5:c.884T>C | ENSP00000370164.1:p.Leu295Pro | |
| ENST00000413894.5:c.884T>C | ENSP00000391154.1:p.Leu295Pro | |
| ENST00000453318.6:c.884T>C | ENSP00000414521.2:p.Leu295Pro | |
| ENST00000616003.4:c.1037T>C | ENSP00000484712.1:p.Leu346Pro | |
| NM_000381.3:c.884T>C | NP_000372.1:p.Leu295Pro | |
| NM_001098624.2:c.884T>C | NP_001092094.1:p.Leu295Pro | |
| NM_001193277.1:c.884T>C | NP_001180206.1:p.Leu295Pro | |
| NM_001193278.1:c.1037T>C | NP_001180207.1:p.Leu346Pro | |
| NM_001193279.1:c.884T>C | NP_001180208.1:p.Leu295Pro | |
| NM_001193280.1:c.770T>C | NP_001180209.1:p.Leu257Pro | |
| NM_033289.1:c.770T>C | NP_150631.1:p.Leu257Pro | |
| NM_033290.3:c.884T>C | NP_150632.1:p.Leu295Pro | |
| XM_005274536.1:c.1037T>C | XP_005274593.1:p.Leu346Pro | |
| XM_005274537.1:c.1037T>C | XP_005274594.1:p.Leu346Pro | |
| XM_005274538.3:c.1037T>C | XP_005274595.1:p.Leu346Pro | |
| XM_006724492.2:c.1037T>C | XP_006724555.1:p.Leu346Pro | |
| XM_006724493.2:c.923T>C | XP_006724556.1:p.Leu308Pro | |
| XM_011545525.1:c.1037T>C | XP_011543827.1:p.Leu346Pro | |
| XM_011545526.1:c.1037T>C | XP_011543828.1:p.Leu346Pro | |
| XM_011545527.1:c.1037T>C | XP_011543829.1:p.Leu346Pro | |
| NM_001347733.1:c.884T>C | NP_001334662.1:p.Leu295Pro | |
| NM_000381.4:c.884T>C MANE Select | NP_000372.1:p.Leu295Pro | |
| NM_001347733.2:c.884T>C | NP_001334662.1:p.Leu295Pro | |
| NM_033289.2:c.770T>C | NP_150631.1:p.Leu257Pro | |
| NM_033290.4:c.884T>C | NP_150632.1:p.Leu295Pro |