Linked Data
dbSNP Id:
rs199720911
ExAC:
1:43803721 A / G
gnomAD v3:
1-43338050-A-G
gnomAD v4:
1-43338050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338050A>G , CM000663.2:g.43338050A>G | GRCh38 |
| NC_000001.10:g.43803721A>G , CM000663.1:g.43803721A>G | GRCh37 |
| NC_000001.9:g.43576308A>G | NCBI36 |
| NG_007525.1:g.5247A>G , LRG_510:g.5247A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372470.9:c.80-49A>G MANE Select | ENSP00000361548.3:n.80-49A>G | |
| ENST00000413998.7:c.80-70A>G | ENSP00000414004.3:n.80-70A>G | |
| ENST00000638732.1:n.80-49A>G | ||
| ENST00000372470.7:c.80-49A>G | ENSP00000361548.3:n.80-49A>G | |
| ENST00000413998.6:c.80-49A>G | ENSP00000414004.2:n.80-49A>G | |
| ENST00000612993.1:c.80-49A>G | ENSP00000480273.1:n.80-49A>G | |
| NM_005373.2:c.80-49A>G , LRG_510t1:c.80-49A>G | NP_005364.1:n.80-49A>G | |
| XM_011541478.1:c.80-70A>G | XP_011539780.1:n.80-70A>G | |
| XM_017001320.1:c.202A>G | XP_016856809.1:p.Ile68Val | |
| NM_005373.3:c.80-49A>G MANE Select | NP_005364.1:n.80-49A>G |