Linked Data
ClinVar Variation Id:
2062671
ClinVar RCV Id:
RCV002957912
dbSNP Id:
rs139293893
ExAC:
5:13769215 C / G
gnomAD v2:
5-13769215-C-G
gnomAD v3:
5-13769106-C-G
gnomAD v4:
5-13769106-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769106C>G , CM000667.2:g.13769106C>G | GRCh38 |
| NC_000005.9:g.13769215C>G , CM000667.1:g.13769215C>G | GRCh37 |
| NC_000005.8:g.13822215C>G | NCBI36 |
| NG_013081.1:g.180375G>C | |
| NG_013081.2:g.180375G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9751G>C MANE Select | ENSP00000265104.4:p.Ala3251Pro | |
| ENST00000681290.1:c.9706G>C | ENSP00000505288.1:p.Ala3236Pro | |
| ENST00000265104.4:c.9751G>C | ENSP00000265104.4:p.Ala3251Pro | |
| ENST00000504001.3:n.463G>C | ||
| NM_001369.2:c.9751G>C | NP_001360.1:p.Ala3251Pro | |
| XM_005248262.2:c.9706G>C | XP_005248319.1:p.Ala3236Pro | |
| XM_005248262.3:c.9859G>C | XP_005248319.2:p.Ala3287Pro | |
| XM_017009177.1:c.9859G>C | XP_016864666.1:p.Ala3287Pro | |
| XM_017009178.1:c.8764G>C | XP_016864667.1:p.Ala2922Pro | |
| XM_017009179.2:c.8764G>C | XP_016864668.1:p.Ala2922Pro | |
| XM_017009180.1:c.9859G>C | XP_016864669.1:p.Ala3287Pro | |
| XM_017009181.1:c.9859G>C | XP_016864670.1:p.Ala3287Pro | |
| XM_017009182.1:c.9859G>C | XP_016864671.1:p.Ala3287Pro | |
| XM_017009185.1:c.4948G>C | XP_016864674.1:p.Ala1650Pro | |
| XM_017009186.1:c.4501G>C | XP_016864675.1:p.Ala1501Pro | |
| XM_017009188.1:c.3838G>C | XP_016864677.1:p.Ala1280Pro | |
| XM_024454388.1:c.8764G>C | XP_024310156.1:p.Ala2922Pro | |
| XM_024454389.1:c.8353G>C | XP_024310157.1:p.Ala2785Pro | |
| NM_001369.3:c.9751G>C MANE Select | NP_001360.1:p.Ala3251Pro |