Linked Data
ClinVar Variation Id:
50365
ClinVar RCV Id:
RCV000043516
dbSNP Id:
rs587776962
PubMed:
PMID:23561849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48911634C>T , CM000685.2:g.48911634C>T | GRCh38 |
| NC_000023.10:g.48768911C>T , CM000685.1:g.48768911C>T | GRCh37 |
| NC_000023.9:g.48653855C>T | NCBI36 |
| NG_016262.1:g.12503G>A | |
| NG_034300.1:g.5325G>A | |
| NG_016262.2:g.12503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247138.11:c.3G>A MANE Select | ENSP00000247138.5:p.Met1Ile | |
| ENST00000247138.10:c.3G>A | ENSP00000247138.5:p.Met1Ile | |
| ENST00000376512.2:c.3G>A | ENSP00000365695.1:p.Met1Ile | |
| ENST00000376515.8:c.19+225G>A | ENSP00000365698.3:n.19+225G>A | |
| ENST00000376521.6:c.3G>A | ENSP00000365704.1:p.Met1Ile | |
| ENST00000376529.8:c.3G>A | ENSP00000365712.3:p.Met1Ile | |
| ENST00000445167.7:c.3G>A | ENSP00000402726.2:p.Met1Ile | |
| ENST00000446885.1:c.-126+79G>A | ENSP00000415518.1:n.-126+79G>A | |
| ENST00000452555.7:c.3G>A | ENSP00000416002.2:p.Met1Ile | |
| ENST00000616181.5:c.3G>A | ENSP00000478617.1:p.Met1Ile | |
| ENST00000634461.1:c.3G>A | ENSP00000489440.1:p.Met1Ile | |
| ENST00000634665.1:c.3G>A | ENSP00000489356.1:p.Met1Ile | |
| ENST00000635015.1:c.3G>A | ENSP00000489089.1:p.Met1Ile | |
| ENST00000635238.1:c.3G>A | ENSP00000489515.1:p.Met1Ile | |
| ENST00000635285.1:c.3G>A | ENSP00000489484.1:p.Met1Ile | |
| ENST00000635460.1:c.1G>A | ||
| ENST00000635589.1:c.3G>A | ENSP00000489197.1:p.Met1Ile | |
| ENST00000635628.1:c.3G>A | ENSP00000489613.1:p.Met1Ile | |
| NM_001032289.2:c.3G>A | NP_001027460.1:p.Met1Ile | |
| NM_001042498.2:c.3G>A | NP_001035963.1:p.Met1Ile | |
| NM_001282647.1:c.3G>A | NP_001269576.1:p.Met1Ile | |
| NM_001282648.1:c.19+225G>A | NP_001269577.1:n.19+225G>A | |
| NM_001282649.1:c.3G>A | NP_001269578.1:p.Met1Ile | |
| NM_001282650.1:c.3G>A | NP_001269579.1:p.Met1Ile | |
| NM_001282651.1:c.3G>A | NP_001269580.1:p.Met1Ile | |
| NM_005660.2:c.3G>A | NP_005651.1:p.Met1Ile | |
| NM_005660.3:c.3G>A MANE Select | NP_005651.1:p.Met1Ile | |
| NM_001032289.3:c.3G>A | NP_001027460.1:p.Met1Ile | |
| NM_001042498.3:c.3G>A | NP_001035963.1:p.Met1Ile | |
| NM_001282647.2:c.3G>A | NP_001269576.1:p.Met1Ile | |
| NM_001282649.2:c.3G>A | NP_001269578.1:p.Met1Ile | |
| NM_001282650.2:c.3G>A | NP_001269579.1:p.Met1Ile | |
| NM_001282651.2:c.3G>A | NP_001269580.1:p.Met1Ile | |
| NM_001282648.2:c.19+225G>A | NP_001269577.1:n.19+225G>A |