Linked Data
dbSNP Id:
rs2148454286
gnomAD v4:
1-46933031-G-C
MyVariant Identifiers:
chr1:g.47398703G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46933031G>C , CM000663.2:g.46933031G>C | GRCh38 |
| NC_000001.10:g.47398703G>C , CM000663.1:g.47398703G>C | GRCh37 |
| NC_000001.9:g.47171290G>C | NCBI36 |
| NG_007932.1:g.13454C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1239C>G MANE Select | ENSP00000311095.4:p.Leu413= | |
| ENST00000310638.8:c.1239C>G | ENSP00000311095.4:p.Leu413= | |
| ENST00000371904.8:c.1242C>G | ENSP00000360971.4:p.Leu414= | |
| ENST00000371905.1:c.1239C>G | ENSP00000360972.1:p.Leu413= | |
| ENST00000462347.5:c.945C>G | ENSP00000477495.1:p.Leu315= | |
| ENST00000465874.5:c.*37C>G | ENSP00000476368.1:n.*37C>G | |
| ENST00000468629.5:c.1127-194C>G | ENSP00000476619.1:n.1127-194C>G | |
| ENST00000474458.5:c.743-194C>G | ENSP00000476988.1:n.743-194C>G | |
| ENST00000475477.5:c.*82-194C>G | ENSP00000476854.1:n.*82-194C>G | |
| NM_000778.3:c.1239C>G | NP_000769.2:p.Leu413= | |
| XM_005270539.1:c.945C>G | XP_005270596.1:p.Leu315= | |
| XM_011540826.1:c.1257C>G | XP_011539128.1:p.Leu419= | |
| XM_011540827.1:c.963C>G | XP_011539129.1:p.Leu321= | |
| XM_011540828.1:c.945C>G | XP_011539130.1:p.Leu315= | |
| XR_246241.1:n.1143C>G | ||
| XR_246242.1:n.1127C>G | ||
| NM_001319155.1:c.1143C>G | NP_001306084.1:p.Leu381= | |
| NM_001363587.1:c.945C>G | NP_001350516.1:p.Leu315= | |
| NR_134988.1:n.944C>G | ||
| NR_134989.1:n.1135C>G | ||
| NR_134990.1:n.1178-194C>G | ||
| NR_134991.1:n.1116C>G | ||
| NR_134992.1:n.794-194C>G | ||
| NR_134993.1:n.928-194C>G | ||
| NR_134994.1:n.1151C>G | ||
| XM_017000465.1:c.927C>G | XP_016855954.1:p.Leu309= | |
| XR_001737005.1:n.1266-194C>G | ||
| NM_000778.4:c.1239C>G MANE Select | NP_000769.2:p.Leu413= | |
| NM_001319155.2:c.1143C>G | NP_001306084.1:p.Leu381= | |
| NM_001363587.2:c.945C>G | NP_001350516.1:p.Leu315= | |
| NR_134988.2:n.936C>G | ||
| NR_134989.2:n.1127C>G | ||
| NR_134990.2:n.1170-194C>G | ||
| NR_134991.2:n.1108C>G | ||
| NR_134992.2:n.786-194C>G | ||
| NR_134993.2:n.920-194C>G | ||
| NR_134994.2:n.1143C>G |