Linked Data
dbSNP Id:
rs2232167
ExAC:
3:172165850 G / C
gnomAD v2:
3-172165850-G-C
gnomAD v4:
3-172448060-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448060G>C , CM000665.2:g.172448060G>C | GRCh38 |
| NC_000003.11:g.172165850G>C , CM000665.1:g.172165850G>C | GRCh37 |
| NC_000003.10:g.173648544G>C | NCBI36 |
| NG_021159.1:g.5397C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.354C>G MANE Select | ENSP00000241256.2:p.Leu118= | |
| ENST00000241256.2:c.354C>G | ENSP00000241256.2:p.Leu118= | |
| ENST00000427970.1:c.354C>G | ENSP00000395344.1:p.Leu118= | |
| NM_004122.2:c.354C>G | NP_004113.1:p.Leu118= | |
| NM_198407.2:c.354C>G MANE Select | NP_940799.1:p.Leu118= |