Linked Data
dbSNP Id:
rs1681102205
gnomAD v4:
1-46932766-T-C
MyVariant Identifiers:
chr1:g.47398438T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932766T>C , CM000663.2:g.46932766T>C | GRCh38 |
| NC_000001.10:g.47398438T>C , CM000663.1:g.47398438T>C | GRCh37 |
| NC_000001.9:g.47171025T>C | NCBI36 |
| NG_007932.1:g.13719A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310638.9:c.1359A>G MANE Select | ENSP00000311095.4:p.Gly453= | |
| ENST00000310638.8:c.1359A>G | ENSP00000311095.4:p.Gly453= | |
| ENST00000371904.8:c.1362A>G | ENSP00000360971.4:p.Gly454= | |
| ENST00000371905.1:c.1359A>G | ENSP00000360972.1:p.Gly453= | |
| ENST00000462347.5:c.1065A>G | ENSP00000477495.1:p.Gly355= | |
| ENST00000465874.5:c.*157A>G | ENSP00000476368.1:n.*157A>G | |
| ENST00000468629.5:c.*64A>G | ENSP00000476619.1:n.*64A>G | |
| ENST00000474458.5:c.*64A>G | ENSP00000476988.1:n.*64A>G | |
| ENST00000475477.5:c.*153A>G | ENSP00000476854.1:n.*153A>G | |
| NM_000778.3:c.1359A>G | NP_000769.2:p.Gly453= | |
| XM_005270539.1:c.1065A>G | XP_005270596.1:p.Gly355= | |
| XM_011540826.1:c.1377A>G | XP_011539128.1:p.Gly459= | |
| XM_011540827.1:c.1083A>G | XP_011539129.1:p.Gly361= | |
| XM_011540828.1:c.1065A>G | XP_011539130.1:p.Gly355= | |
| XR_246241.1:n.1263A>G | ||
| XR_246242.1:n.1247A>G | ||
| NM_001319155.1:c.1263A>G | NP_001306084.1:p.Gly421= | |
| NM_001363587.1:c.1065A>G | NP_001350516.1:p.Gly355= | |
| NR_134988.1:n.1064A>G | ||
| NR_134989.1:n.1255A>G | ||
| NR_134990.1:n.1249A>G | ||
| NR_134991.1:n.1236A>G | ||
| NR_134992.1:n.865A>G | ||
| NR_134993.1:n.999A>G | ||
| NR_134994.1:n.1271A>G | ||
| XM_017000465.1:c.1047A>G | XP_016855954.1:p.Gly349= | |
| XR_001737005.1:n.1337A>G | ||
| NM_000778.4:c.1359A>G MANE Select | NP_000769.2:p.Gly453= | |
| NM_001319155.2:c.1263A>G | NP_001306084.1:p.Gly421= | |
| NM_001363587.2:c.1065A>G | NP_001350516.1:p.Gly355= | |
| NR_134988.2:n.1056A>G | ||
| NR_134989.2:n.1247A>G | ||
| NR_134990.2:n.1241A>G | ||
| NR_134991.2:n.1228A>G | ||
| NR_134992.2:n.857A>G | ||
| NR_134993.2:n.991A>G | ||
| NR_134994.2:n.1263A>G |