Linked Data
dbSNP Id:
rs1335192292
gnomAD v2:
1-43803692-G-A
gnomAD v3:
1-43338021-G-A
gnomAD v4:
1-43338021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338021G>A , CM000663.2:g.43338021G>A | GRCh38 |
| NC_000001.10:g.43803692G>A , CM000663.1:g.43803692G>A | GRCh37 |
| NC_000001.9:g.43576279G>A | NCBI36 |
| NG_007525.1:g.5218G>A , LRG_510:g.5218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.80-78G>A MANE Select | ENSP00000361548.3:n.80-78G>A | |
| ENST00000413998.7:c.79+94G>A | ENSP00000414004.3:n.79+94G>A | |
| ENST00000638732.1:n.80-78G>A | ||
| ENST00000372470.7:c.80-78G>A | ENSP00000361548.3:n.80-78G>A | |
| ENST00000413998.6:c.80-78G>A | ENSP00000414004.2:n.80-78G>A | |
| ENST00000612993.1:c.80-78G>A | ENSP00000480273.1:n.80-78G>A | |
| NM_005373.2:c.80-78G>A , LRG_510t1:c.80-78G>A | NP_005364.1:n.80-78G>A | |
| XM_011541478.1:c.79+94G>A | XP_011539780.1:n.79+94G>A | |
| XM_017001320.1:c.173G>A | XP_016856809.1:p.Gly58Asp | |
| NM_005373.3:c.80-78G>A MANE Select | NP_005364.1:n.80-78G>A |