Linked Data
ClinVar Variation Id:
3118395
ClinVar RCV Id:
RCV004412776
dbSNP Id:
rs760388860
gnomAD v2:
4-1817510-C-G
gnomAD v3:
4-1815783-C-G
gnomAD v4:
4-1815783-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1815783C>G , CM000666.2:g.1815783C>G | GRCh38 |
| NC_000004.11:g.1817510C>G , CM000666.1:g.1817510C>G | GRCh37 |
| NC_000004.10:g.1787308C>G | NCBI36 |
| NG_013063.1:g.45465G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1951G>C MANE Select | ENSP00000305653.2:p.Ala651Pro | |
| ENST00000302787.2:c.1951G>C | ENSP00000305653.2:p.Ala651Pro | |
| NM_012318.2:c.1951G>C | NP_036450.1:p.Ala651Pro | |
| XM_005247970.3:c.1036G>C | XP_005248027.1:p.Ala346Pro | |
| XM_006713884.1:c.1948G>C | XP_006713947.1:p.Ala650Pro | |
| NM_012318.3:c.1951G>C MANE Select | NP_036450.1:p.Ala651Pro |