Linked Data
ClinVar Variation Id:
970998
ClinVar RCV Id:
RCV001246675
dbSNP Id:
rs571555515
ExAC:
12:110006618 A / G
gnomAD v2:
12-110006618-A-G
gnomAD v3:
12-109568813-A-G
gnomAD v4:
12-109568813-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568813A>G , CM000674.2:g.109568813A>G | GRCh38 |
| NC_000012.11:g.110006618A>G , CM000674.1:g.110006618A>G | GRCh37 |
| NC_000012.10:g.108491001A>G | NCBI36 |
| NG_007096.1:g.9685T>C | |
| NG_007702.1:g.119A>G , LRG_156:g.119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.247T>C MANE Select | ENSP00000445920.1:p.Phe83Leu | |
| ENST00000420167.6:c.*76T>C | ENSP00000416136.2:n.*76T>C | |
| ENST00000503497.7:c.247T>C | ENSP00000474881.1:p.Phe83Leu | |
| ENST00000536760.1:n.250T>C | ||
| ENST00000537236.2:c.247T>C | ENSP00000483818.1:p.Phe83Leu | |
| ENST00000537496.5:c.247T>C | ENSP00000444793.1:p.Phe83Leu | |
| ENST00000540016.5:c.135-3637T>C | ENSP00000474582.1:n.135-3637T>C | |
| ENST00000541763.6:c.247T>C | ENSP00000474981.1:p.Phe83Leu | |
| ENST00000542390.5:n.274T>C | ||
| ENST00000544051.5:c.*41T>C | ENSP00000438079.1:n.*41T>C | |
| ENST00000545712.6:c.247T>C | ENSP00000445920.1:p.Phe83Leu | |
| NM_052845.3:c.247T>C | NP_443077.1:p.Phe83Leu | |
| NR_038118.1:n.320T>C | ||
| XM_024448961.1:c.247T>C | XP_024304729.1:p.Phe83Leu | |
| NM_052845.4:c.247T>C MANE Select | NP_443077.1:p.Phe83Leu | |
| NR_038118.2:n.271T>C |