Linked Data
ClinVar Variation Id:
412501
ClinVar RCV Id:
RCV000562051
RCV000508222
RCV001328335
RCV003476141
RCV002230195
RCV003153649
RCV004002008
dbSNP Id:
rs199517389
ExAC:
11:111959676 G / C
gnomAD v2:
11-111959676-G-C
gnomAD v3:
11-112088952-G-C
gnomAD v4:
11-112088952-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112088952G>C , CM000673.2:g.112088952G>C | GRCh38 |
| NC_000011.9:g.111959676G>C , CM000673.1:g.111959676G>C | GRCh37 |
| NC_000011.8:g.111464886G>C | NCBI36 |
| NG_012337.2:g.7106G>C | |
| NG_033145.1:g.2847C>G | |
| NG_012337.3:g.7106G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.255G>C | ENSP00000432946.2:p.Leu85Phe | |
| ENST00000534010.2:c.255G>C | ENSP00000433202.2:p.Leu85Phe | |
| ENST00000375549.8:c.255G>C MANE Select | ENSP00000364699.3:p.Leu85Phe | |
| ENST00000528021.6:c.255G>C | ENSP00000432465.1:p.Leu85Phe | |
| ENST00000640554.1:c.*327G>C | ENSP00000491141.1:n.*327G>C | |
| ENST00000375549.7:c.255G>C | ENSP00000364699.3:p.Leu85Phe | |
| ENST00000525291.5:c.138G>C | ENSP00000436669.1:p.Leu46Phe | |
| ENST00000525987.5:n.260G>C | ||
| ENST00000526592.5:c.255G>C | ENSP00000432005.1:p.Leu85Phe | |
| ENST00000528021.5:c.255G>C | ENSP00000432465.1:p.Leu85Phe | |
| ENST00000528048.5:c.169+979G>C | ENSP00000436217.1:n.169+979G>C | |
| ENST00000528182.5:c.255G>C | ENSP00000435475.1:p.Leu85Phe | |
| ENST00000530923.5:c.245G>C | ||
| ENST00000531744.5:c.255G>C | ENSP00000456957.1:p.Leu85Phe | |
| ENST00000532699.1:c.255G>C | ENSP00000456434.1:p.Leu85Phe | |
| ENST00000534010.1:c.86G>C | ||
| ENST00000614349.4:c.255G>C | ENSP00000480666.1:p.Leu85Phe | |
| NM_001276503.1:c.169+979G>C | NP_001263432.1:n.169+979G>C | |
| NM_001276504.1:c.138G>C | NP_001263433.1:p.Leu46Phe | |
| NM_001276506.1:c.255G>C | NP_001263435.1:p.Leu85Phe | |
| NM_003002.3:c.255G>C | NP_002993.1:p.Leu85Phe | |
| NR_077060.1:n.339G>C | ||
| NM_003002.4:c.255G>C MANE Select | NP_002993.1:p.Leu85Phe | |
| NM_001276503.2:c.169+979G>C | NP_001263432.1:n.169+979G>C | |
| NM_001276504.2:c.138G>C | NP_001263433.1:p.Leu46Phe | |
| NM_001276506.2:c.255G>C | NP_001263435.1:p.Leu85Phe | |
| NR_077060.2:n.290G>C |