Linked Data
ClinVar Variation Id:
161458
ClinVar RCV Id:
RCV000148992
dbSNP Id:
rs193920927
COSMIC:
COSM1180177
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134802936C>G , CM000671.2:g.134802936C>G | GRCh38 |
| NC_000009.11:g.137694782C>G , CM000671.1:g.137694782C>G | GRCh37 |
| NC_000009.10:g.136834603C>G | NCBI36 |
| NG_008030.1:g.166131C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.3055C>G | ENSP00000360885.4:p.Pro1019Ala | |
| ENST00000371817.8:c.3055C>G MANE Select | ENSP00000360882.3:p.Pro1019Ala | |
| ENST00000371817.7:c.3055C>G | ENSP00000360882.3:p.Pro1019Ala | |
| ENST00000618395.4:c.3055C>G | ENSP00000481360.1:p.Pro1019Ala | |
| NM_000093.4:c.3055C>G | NP_000084.3:p.Pro1019Ala | |
| NM_001278074.1:c.3055C>G | NP_001265003.1:p.Pro1019Ala | |
| XR_929712.1:n.3457C>G | ||
| XR_929713.1:n.3457C>G | ||
| XM_017014266.2:c.3055C>G | XP_016869755.1:p.Pro1019Ala | |
| XR_001746183.1:n.3453C>G | ||
| NM_000093.5:c.3055C>G MANE Select | NP_000084.3:p.Pro1019Ala |