Linked Data
ClinVar Variation Id:
336666
dbSNP Id:
rs202077756
ExAC:
2:61258799 T / C
gnomAD v2:
2-61258799-T-C
gnomAD v3:
2-61031664-T-C
gnomAD v4:
2-61031664-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031664T>C , CM000664.2:g.61031664T>C | GRCh38 |
| NC_000002.11:g.61258799T>C , CM000664.1:g.61258799T>C | GRCh37 |
| NC_000002.10:g.61112303T>C | NCBI36 |
| NG_008665.1:g.18988T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.338T>C MANE Select | ENSP00000295030.4:p.Leu113Pro | |
| ENST00000295030.5:c.338T>C | ENSP00000295030.4:p.Leu113Pro | |
| ENST00000472678.1:n.401T>C | ||
| NM_002618.3:c.338T>C | NP_002609.1:p.Leu113Pro | |
| XM_011532904.1:c.221T>C | XP_011531206.1:p.Leu74Pro | |
| NM_002618.4:c.338T>C MANE Select | NP_002609.1:p.Leu113Pro |