Linked Data
dbSNP Id:
rs150667037
ExAC:
1:47398659 G / A
gnomAD v2:
1-47398659-G-A
gnomAD v3:
1-46932987-G-A
gnomAD v4:
1-46932987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932987G>A , CM000663.2:g.46932987G>A | GRCh38 |
| NC_000001.10:g.47398659G>A , CM000663.1:g.47398659G>A | GRCh37 |
| NC_000001.9:g.47171246G>A | NCBI36 |
| NG_007932.1:g.13498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1283C>T MANE Select | ENSP00000311095.4:p.Pro428Leu | |
| ENST00000310638.8:c.1283C>T | ENSP00000311095.4:p.Pro428Leu | |
| ENST00000371904.8:c.1286C>T | ENSP00000360971.4:p.Pro429Leu | |
| ENST00000371905.1:c.1283C>T | ENSP00000360972.1:p.Pro428Leu | |
| ENST00000462347.5:c.989C>T | ENSP00000477495.1:p.Pro330Leu | |
| ENST00000465874.5:c.*81C>T | ENSP00000476368.1:n.*81C>T | |
| ENST00000468629.5:c.1127-150C>T | ENSP00000476619.1:n.1127-150C>T | |
| ENST00000474458.5:c.743-150C>T | ENSP00000476988.1:n.743-150C>T | |
| ENST00000475477.5:c.*82-150C>T | ENSP00000476854.1:n.*82-150C>T | |
| NM_000778.3:c.1283C>T | NP_000769.2:p.Pro428Leu | |
| XM_005270539.1:c.989C>T | XP_005270596.1:p.Pro330Leu | |
| XM_011540826.1:c.1301C>T | XP_011539128.1:p.Pro434Leu | |
| XM_011540827.1:c.1007C>T | XP_011539129.1:p.Pro336Leu | |
| XM_011540828.1:c.989C>T | XP_011539130.1:p.Pro330Leu | |
| XR_246241.1:n.1187C>T | ||
| XR_246242.1:n.1171C>T | ||
| NM_001319155.1:c.1187C>T | NP_001306084.1:p.Pro396Leu | |
| NM_001363587.1:c.989C>T | NP_001350516.1:p.Pro330Leu | |
| NR_134988.1:n.988C>T | ||
| NR_134989.1:n.1179C>T | ||
| NR_134990.1:n.1178-150C>T | ||
| NR_134991.1:n.1160C>T | ||
| NR_134992.1:n.794-150C>T | ||
| NR_134993.1:n.928-150C>T | ||
| NR_134994.1:n.1195C>T | ||
| XM_017000465.1:c.971C>T | XP_016855954.1:p.Pro324Leu | |
| XR_001737005.1:n.1266-150C>T | ||
| NM_000778.4:c.1283C>T MANE Select | NP_000769.2:p.Pro428Leu | |
| NM_001319155.2:c.1187C>T | NP_001306084.1:p.Pro396Leu | |
| NM_001363587.2:c.989C>T | NP_001350516.1:p.Pro330Leu | |
| NR_134988.2:n.980C>T | ||
| NR_134989.2:n.1171C>T | ||
| NR_134990.2:n.1170-150C>T | ||
| NR_134991.2:n.1152C>T | ||
| NR_134992.2:n.786-150C>T | ||
| NR_134993.2:n.920-150C>T | ||
| NR_134994.2:n.1187C>T |