ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158613850A>G , CM000663.2:g.158613850A>G | GRCh38 |
| NC_000001.10:g.158583640A>G , CM000663.1:g.158583640A>G | GRCh37 |
| NC_000001.9:g.156850264A>G | NCBI36 |
| NG_011474.1:g.77867T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.6860T>C MANE Select | ENSP00000495214.1:p.Leu2287Ser | |
| ENST00000368147.8:c.6860T>C | ENSP00000357129.4:p.Leu2287Ser | |
| ENST00000481212.5:n.301T>C | ||
| ENST00000498708.1:n.292T>C | ||
| ENST00000614909.4:c.6860T>C | ENSP00000482595.1:p.Leu2287Ser | |
| NM_003126.2:c.6860T>C | NP_003117.2:p.Leu2287Ser | |
| XM_011509916.1:c.6860T>C | XP_011508218.1:p.Leu2287Ser | |
| XM_011509917.1:c.6842T>C | XP_011508219.1:p.Leu2281Ser | |
| NM_003126.3:c.6860T>C | NP_003117.2:p.Leu2287Ser | |
| XM_011509916.2:c.6860T>C | XP_011508218.1:p.Leu2287Ser | |
| XM_011509917.3:c.6842T>C | XP_011508219.1:p.Leu2281Ser | |
| NM_003126.4:c.6860T>C MANE Select | NP_003117.2:p.Leu2287Ser |