Linked Data
ClinVar Variation Id:
1329285
ClinVar RCV Id:
RCV001799328
dbSNP Id:
rs140275295
gnomAD v2:
15-67457631-G-T
gnomAD v3:
15-67165293-G-T
gnomAD v4:
15-67165293-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67165293G>T , CM000677.2:g.67165293G>T | GRCh38 |
| NC_000015.9:g.67457631G>T , CM000677.1:g.67457631G>T | GRCh37 |
| NC_000015.8:g.65244685G>T | NCBI36 |
| NG_011990.1:g.104437G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558739.2:c.126G>T | ENSP00000453684.2:p.Pro42= | |
| ENST00000559460.6:c.126G>T | ENSP00000453082.2:p.Pro42= | |
| ENST00000560424.2:c.441G>T | ENSP00000455540.2:p.Pro147= | |
| ENST00000327367.9:c.441G>T MANE Select | ENSP00000332973.4:p.Pro147= | |
| ENST00000679624.1:c.126G>T | ENSP00000505445.1:p.Pro42= | |
| ENST00000681239.1:c.126G>T | ENSP00000505641.1:p.Pro42= | |
| ENST00000327367.8:c.441G>T | ENSP00000332973.4:p.Pro147= | |
| ENST00000439724.7:c.309G>T | ENSP00000401133.3:p.Pro103= | |
| ENST00000540846.6:c.126G>T | ENSP00000437757.2:p.Pro42= | |
| ENST00000558739.1:c.126G>T | ENSP00000453684.1:p.Pro42= | |
| ENST00000558894.5:c.126G>T | ENSP00000458060.1:p.Pro42= | |
| ENST00000559460.5:c.126G>T | ENSP00000453082.1:p.Pro42= | |
| ENST00000559937.1:n.291G>T | ||
| ENST00000560175.5:c.126G>T | ENSP00000455095.1:p.Pro42= | |
| NM_001145102.1:c.126G>T | NP_001138574.1:p.Pro42= | |
| NM_001145103.1:c.309G>T | NP_001138575.1:p.Pro103= | |
| NM_005902.3:c.441G>T | NP_005893.1:p.Pro147= | |
| XM_011521559.1:c.400+205G>T | XP_011519861.1:n.400+205G>T | |
| XM_011521560.1:c.294G>T | XP_011519862.1:p.Pro98= | |
| XM_011521559.3:c.400+205G>T | XP_011519861.1:n.400+205G>T | |
| NM_005902.4:c.441G>T MANE Select | NP_005893.1:p.Pro147= | |
| NM_001145102.2:c.126G>T | NP_001138574.1:p.Pro42= | |
| NM_001145103.2:c.309G>T | NP_001138575.1:p.Pro103= |