Linked Data
ClinVar Variation Id:
1012931
ClinVar RCV Id:
RCV001311174
dbSNP Id:
rs774776009
gnomAD v2:
19-13318454-G-C
gnomAD v4:
19-13207640-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13207640G>C , CM000681.2:g.13207640G>C | GRCh38 |
| NC_000019.9:g.13318454G>C , CM000681.1:g.13318454G>C | GRCh37 |
| NC_000019.8:g.13179454G>C | NCBI36 |
| NG_011569.1:g.303821C>G , LRG_7:g.303821C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.7194C>G MANE Select | ENSP00000353362.5:p.Ser2398= | |
| ENST00000573710.7:c.7200C>G | ENSP00000460092.3:p.Ser2400= | |
| ENST00000585802.6:c.2319C>G | ENSP00000465598.2:p.Ser773= | |
| ENST00000635727.1:c.7197C>G | ENSP00000490001.1:p.Ser2399= | |
| ENST00000635895.1:c.*406C>G | ENSP00000490323.1:n.*406C>G | |
| ENST00000636012.1:c.7161C>G | ENSP00000490223.1:p.Ser2387= | |
| ENST00000636389.1:c.*280C>G | ENSP00000489992.1:n.*280C>G | |
| ENST00000637432.1:c.*406C>G | ENSP00000490617.1:n.*406C>G | |
| ENST00000637736.1:c.7056C>G | ENSP00000489861.1:p.Ser2352= | |
| ENST00000637769.1:c.7197C>G | ENSP00000489778.1:p.Ser2399= | |
| ENST00000638009.2:c.*406C>G | ENSP00000489913.1:n.*406C>G | |
| ENST00000638029.1:c.7212C>G | ENSP00000489829.1:p.Ser2404= | |
| ENST00000360228.9:c.7194C>G | ENSP00000353362.5:p.Ser2398= | |
| ENST00000573710.6:c.*406C>G | ENSP00000460092.2:n.*406C>G | |
| ENST00000585802.5:c.3216C>G | ENSP00000465598.1:p.Ser1072= | |
| ENST00000587525.5:c.2619C>G | ENSP00000467729.1:p.Ser873= | |
| ENST00000614285.4:c.7212C>G | ENSP00000479983.1:p.Ser2404= | |
| NM_000068.3:c.*406C>G | NP_000059.3:n.*406C>G | |
| NM_001127221.1:c.*406C>G , LRG_7t1:c.*406C>G | NP_001120693.1:n.*406C>G | |
| NM_001127222.1:c.7194C>G | NP_001120694.1:p.Ser2398= | |
| NM_001174080.1:c.*406C>G | NP_001167551.1:n.*406C>G | |
| NM_023035.2:c.7212C>G | NP_075461.2:p.Ser2404= | |
| NM_000068.4:c.*406C>G | NP_000059.3:n.*406C>G | |
| NM_001127222.2:c.7194C>G MANE Select | NP_001120694.1:p.Ser2398= | |
| NM_001174080.2:c.*406C>G | NP_001167551.1:n.*406C>G | |
| NM_023035.3:c.7212C>G | NP_075461.2:p.Ser2404= | |
| NM_001127221.2:c.*406C>G | NP_001120693.1:n.*406C>G |