Linked Data
ClinVar Variation Id:
515189
ClinVar RCV Id:
RCV000611757
dbSNP Id:
rs571705126
gnomAD v2:
14-97263742-G-C
gnomAD v3:
14-96797405-G-C
gnomAD v4:
14-96797405-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96797405G>C , CM000676.2:g.96797405G>C | GRCh38 |
| NC_000014.8:g.97263742G>C , CM000676.1:g.97263742G>C | GRCh37 |
| NC_000014.7:g.96333495G>C | NCBI36 |
| NG_016293.1:g.5059G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216639.8:c.-48G>C MANE Select | ENSP00000216639.3:n.-48G>C | |
| ENST00000553683.2:c.-48G>C | ENSP00000451412.2:n.-48G>C | |
| ENST00000555351.2:n.75G>C | ||
| ENST00000557222.6:c.-211G>C | ENSP00000450820.2:n.-211G>C | |
| ENST00000557352.2:c.-48G>C | ENSP00000451682.2:n.-48G>C | |
| ENST00000679452.1:c.-162G>C | ENSP00000505395.1:n.-162G>C | |
| ENST00000679533.1:c.-48G>C | ENSP00000505873.1:n.-48G>C | |
| ENST00000679727.1:c.-48G>C | ENSP00000505844.1:n.-48G>C | |
| ENST00000679736.1:c.-48G>C | ENSP00000506517.1:n.-48G>C | |
| ENST00000679758.1:c.-48G>C | ENSP00000505539.1:n.-48G>C | |
| ENST00000679903.1:c.-48G>C | ENSP00000506022.1:n.-48G>C | |
| ENST00000679941.1:c.-48G>C | ENSP00000506520.1:n.-48G>C | |
| ENST00000679977.1:c.-48G>C | ENSP00000504897.1:n.-48G>C | |
| ENST00000680084.1:n.59G>C | ||
| ENST00000680335.1:c.-48G>C | ENSP00000505806.1:n.-48G>C | |
| ENST00000680348.1:c.-48G>C | ENSP00000504922.1:n.-48G>C | |
| ENST00000680387.1:c.-48G>C | ENSP00000504908.1:n.-48G>C | |
| ENST00000680509.1:c.-34G>C | ENSP00000505209.1:n.-34G>C | |
| ENST00000680538.1:c.-48G>C | ENSP00000505611.1:n.-48G>C | |
| ENST00000680683.1:c.-48G>C | ENSP00000506334.1:n.-48G>C | |
| ENST00000680849.1:c.-48G>C | ENSP00000505602.1:n.-48G>C | |
| ENST00000680922.1:c.-48G>C | ENSP00000506480.1:n.-48G>C | |
| ENST00000681101.1:c.-48G>C | ENSP00000506564.1:n.-48G>C | |
| ENST00000681176.1:c.-48G>C | ENSP00000505454.1:n.-48G>C | |
| ENST00000681195.1:c.-48G>C | ENSP00000504933.1:n.-48G>C | |
| ENST00000681363.1:c.-48G>C | ENSP00000505564.1:n.-48G>C | |
| ENST00000681419.1:c.-48G>C | ENSP00000505512.1:n.-48G>C | |
| ENST00000681474.1:c.-48G>C | ENSP00000505569.1:n.-48G>C | |
| ENST00000681524.1:c.-48G>C | ENSP00000505783.1:n.-48G>C | |
| ENST00000681538.1:c.-48G>C | ENSP00000506662.1:n.-48G>C | |
| ENST00000681598.1:c.-48G>C | ENSP00000506128.1:n.-48G>C | |
| ENST00000216639.7:c.-48G>C | ENSP00000216639.3:n.-48G>C | |
| ENST00000555351.1:n.21G>C | ||
| NM_003384.2:c.-48G>C | NP_003375.1:n.-48G>C | |
| XM_006720247.2:c.-48G>C | XP_006720310.1:n.-48G>C | |
| XM_006720247.4:c.-48G>C | XP_006720310.1:n.-48G>C | |
| XM_017021624.2:c.-48G>C | XP_016877113.1:n.-48G>C | |
| XM_017021626.2:c.-48G>C | XP_016877115.1:n.-48G>C | |
| XR_001750539.2:n.21G>C | ||
| NM_003384.3:c.-48G>C MANE Select | NP_003375.1:n.-48G>C |