Linked Data
ClinVar Variation Id:
336668
ClinVar RCV Id:
RCV000344942
dbSNP Id:
rs886056197
gnomAD v4:
2-61031743-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031743A>G , CM000664.2:g.61031743A>G | GRCh38 |
| NC_000002.11:g.61258878A>G , CM000664.1:g.61258878A>G | GRCh37 |
| NC_000002.10:g.61112382A>G | NCBI36 |
| NG_008665.1:g.19067A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.417A>G MANE Select | ENSP00000295030.4:p.Ala139= | |
| ENST00000295030.5:c.417A>G | ENSP00000295030.4:p.Ala139= | |
| ENST00000472678.1:n.480A>G | ||
| NM_002618.3:c.417A>G | NP_002609.1:p.Ala139= | |
| XM_011532904.1:c.300A>G | XP_011531206.1:p.Ala100= | |
| NM_002618.4:c.417A>G MANE Select | NP_002609.1:p.Ala139= |