Linked Data
dbSNP Id:
rs760147374
gnomAD v2:
1-43803723-A-C
gnomAD v3:
1-43338052-A-C
gnomAD v4:
1-43338052-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338052A>C , CM000663.2:g.43338052A>C | GRCh38 |
| NC_000001.10:g.43803723A>C , CM000663.1:g.43803723A>C | GRCh37 |
| NC_000001.9:g.43576310A>C | NCBI36 |
| NG_007525.1:g.5249A>C , LRG_510:g.5249A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372470.9:c.80-47A>C MANE Select | ENSP00000361548.3:n.80-47A>C | |
| ENST00000413998.7:c.80-68A>C | ENSP00000414004.3:n.80-68A>C | |
| ENST00000638732.1:n.80-47A>C | ||
| ENST00000372470.7:c.80-47A>C | ENSP00000361548.3:n.80-47A>C | |
| ENST00000413998.6:c.80-47A>C | ENSP00000414004.2:n.80-47A>C | |
| ENST00000612993.1:c.80-47A>C | ENSP00000480273.1:n.80-47A>C | |
| NM_005373.2:c.80-47A>C , LRG_510t1:c.80-47A>C | NP_005364.1:n.80-47A>C | |
| XM_011541478.1:c.80-68A>C | XP_011539780.1:n.80-68A>C | |
| XM_017001320.1:c.204A>C | XP_016856809.1:p.Ile68= | |
| NM_005373.3:c.80-47A>C MANE Select | NP_005364.1:n.80-47A>C |