Linked Data
dbSNP Id:
rs750970979
ExAC:
1:47398608 T / C
gnomAD v2:
1-47398608-T-C
gnomAD v4:
1-46932936-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932936T>C , CM000663.2:g.46932936T>C | GRCh38 |
| NC_000001.10:g.47398608T>C , CM000663.1:g.47398608T>C | GRCh37 |
| NC_000001.9:g.47171195T>C | NCBI36 |
| NG_007932.1:g.13549A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1287+47A>G MANE Select | ENSP00000311095.4:n.1287+47A>G | |
| ENST00000310638.8:c.1287+47A>G | ENSP00000311095.4:n.1287+47A>G | |
| ENST00000371904.8:c.1290+47A>G | ENSP00000360971.4:n.1290+47A>G | |
| ENST00000371905.1:c.1287+47A>G | ENSP00000360972.1:n.1287+47A>G | |
| ENST00000462347.5:c.993+47A>G | ENSP00000477495.1:n.993+47A>G | |
| ENST00000465874.5:c.*85+47A>G | ENSP00000476368.1:n.*85+47A>G | |
| ENST00000468629.5:c.1127-99A>G | ENSP00000476619.1:n.1127-99A>G | |
| ENST00000474458.5:c.743-99A>G | ENSP00000476988.1:n.743-99A>G | |
| ENST00000475477.5:c.*82-99A>G | ENSP00000476854.1:n.*82-99A>G | |
| NM_000778.3:c.1287+47A>G | NP_000769.2:n.1287+47A>G | |
| XM_005270539.1:c.993+47A>G | XP_005270596.1:n.993+47A>G | |
| XM_011540826.1:c.1305+47A>G | XP_011539128.1:n.1305+47A>G | |
| XM_011540827.1:c.1011+47A>G | XP_011539129.1:n.1011+47A>G | |
| XM_011540828.1:c.993+47A>G | XP_011539130.1:n.993+47A>G | |
| XR_246241.1:n.1191+47A>G | ||
| XR_246242.1:n.1175+47A>G | ||
| NM_001319155.1:c.1191+47A>G | NP_001306084.1:n.1191+47A>G | |
| NM_001363587.1:c.993+47A>G | NP_001350516.1:n.993+47A>G | |
| NR_134988.1:n.992+47A>G | ||
| NR_134989.1:n.1183+47A>G | ||
| NR_134990.1:n.1178-99A>G | ||
| NR_134991.1:n.1164+47A>G | ||
| NR_134992.1:n.794-99A>G | ||
| NR_134993.1:n.928-99A>G | ||
| NR_134994.1:n.1199+47A>G | ||
| XM_017000465.1:c.975+47A>G | XP_016855954.1:n.975+47A>G | |
| XR_001737005.1:n.1266-99A>G | ||
| NM_000778.4:c.1287+47A>G MANE Select | NP_000769.2:n.1287+47A>G | |
| NM_001319155.2:c.1191+47A>G | NP_001306084.1:n.1191+47A>G | |
| NM_001363587.2:c.993+47A>G | NP_001350516.1:n.993+47A>G | |
| NR_134988.2:n.984+47A>G | ||
| NR_134989.2:n.1175+47A>G | ||
| NR_134990.2:n.1170-99A>G | ||
| NR_134991.2:n.1156+47A>G | ||
| NR_134992.2:n.786-99A>G | ||
| NR_134993.2:n.920-99A>G | ||
| NR_134994.2:n.1191+47A>G |