Linked Data
ClinVar Variation Id:
290794
dbSNP Id:
rs886044558
gnomAD v2:
4-5713196-C-T
gnomAD v3:
4-5711469-C-T
gnomAD v4:
4-5711469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5711469C>T , CM000666.2:g.5711469C>T | GRCh38 |
| NC_000004.11:g.5713196C>T , CM000666.1:g.5713196C>T | GRCh37 |
| NC_000004.10:g.5764097C>T | NCBI36 |
| NG_008843.1:g.5273C>T | |
| NG_015821.1:g.3080G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264956.11:c.89C>T MANE Select | ENSP00000264956.6:p.Pro30Leu | |
| ENST00000264956.10:c.89C>T | ENSP00000264956.6:p.Pro30Leu | |
| ENST00000509451.1:c.89C>T | ENSP00000426774.1:p.Pro30Leu | |
| NM_001306090.1:c.89C>T | NP_001293019.1:p.Pro30Leu | |
| NM_001306092.1:c.89C>T | NP_001293021.1:p.Pro30Leu | |
| NM_153717.2:c.89C>T | NP_714928.1:p.Pro30Leu | |
| XM_006713865.2:c.89C>T | XP_006713928.1:p.Pro30Leu | |
| XM_006713866.2:c.89C>T | XP_006713929.1:p.Pro30Leu | |
| XM_011513419.1:c.89C>T | XP_011511721.1:p.Pro30Leu | |
| XR_427473.2:n.279C>T | ||
| XR_427475.2:n.279C>T | ||
| XR_427476.2:n.279C>T | ||
| XR_924920.1:n.279C>T | ||
| XR_924921.1:n.279C>T | ||
| XR_924922.1:n.279C>T | ||
| XR_924923.1:n.279C>T | ||
| XR_924924.1:n.279C>T | ||
| XR_924925.1:n.279C>T | ||
| XR_924926.1:n.279C>T | ||
| XR_924927.1:n.279C>T | ||
| XR_924928.1:n.281C>T | ||
| XM_006713865.3:c.89C>T | XP_006713928.1:p.Pro30Leu | |
| XM_006713866.3:c.89C>T | XP_006713929.1:p.Pro30Leu | |
| XM_011513419.2:c.89C>T | XP_011511721.1:p.Pro30Leu | |
| XM_017007883.2:c.89C>T | XP_016863372.1:p.Pro30Leu | |
| XR_001741164.1:n.269C>T | ||
| XR_001741165.1:n.269C>T | ||
| XR_001741166.1:n.269C>T | ||
| XR_001741167.1:n.269C>T | ||
| XR_001741168.1:n.269C>T | ||
| XR_001741169.2:n.271C>T | ||
| XR_001741170.1:n.271C>T | ||
| XR_427473.3:n.269C>T | ||
| XR_427475.3:n.269C>T | ||
| XR_427476.3:n.269C>T | ||
| XR_924920.2:n.269C>T | ||
| XR_924921.2:n.269C>T | ||
| XR_924922.2:n.269C>T | ||
| XR_924924.2:n.269C>T | ||
| XR_924925.2:n.269C>T | ||
| XR_924926.2:n.269C>T | ||
| NM_153717.3:c.89C>T MANE Select | NP_714928.1:p.Pro30Leu | |
| NM_001306090.2:c.89C>T | NP_001293019.1:p.Pro30Leu | |
| NM_001306092.2:c.89C>T | NP_001293021.1:p.Pro30Leu |