Linked Data
dbSNP Id:
rs573703749
ExAC:
12:103310917 C / G
gnomAD v2:
12-103310917-C-G
gnomAD v3:
12-102917139-C-G
gnomAD v4:
12-102917139-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917139C>G , CM000674.2:g.102917139C>G | GRCh38 |
| NC_000012.11:g.103310917C>G , CM000674.1:g.103310917C>G | GRCh37 |
| NC_000012.10:g.101835047C>G | NCBI36 |
| NG_008690.1:g.5464G>C | |
| NG_008690.2:g.46272G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.-9G>C MANE Select | ENSP00000448059.1:n.-9G>C | |
| ENST00000307000.7:c.-156G>C | ENSP00000303500.2:n.-156G>C | |
| ENST00000546844.1:c.-9G>C | ENSP00000446658.1:n.-9G>C | |
| ENST00000547319.1:n.303G>C | ||
| ENST00000549111.5:n.88G>C | ||
| ENST00000551337.5:c.-9G>C | ENSP00000447620.1:n.-9G>C | |
| ENST00000551988.5:n.81G>C | ||
| ENST00000553106.5:c.-9G>C | ENSP00000448059.1:n.-9G>C | |
| ENST00000635500.1:n.29-4241G>C | ||
| NM_000277.1:c.-9G>C | NP_000268.1:n.-9G>C | |
| XM_011538422.1:c.-9G>C | XP_011536724.1:n.-9G>C | |
| NM_000277.2:c.-9G>C | NP_000268.1:n.-9G>C | |
| NM_001354304.1:c.-9G>C | NP_001341233.1:n.-9G>C | |
| XM_017019370.2:c.-9G>C | XP_016874859.1:n.-9G>C | |
| NM_000277.3:c.-9G>C MANE Select | NP_000268.1:n.-9G>C | |
| NM_001354304.2:c.-9G>C | NP_001341233.1:n.-9G>C |