Linked Data
ClinVar Variation Id:
134934
ClinVar RCV Id:
RCV000121684
RCV000230241
RCV002269859
RCV003114267
RCV002284189
RCV002312813
RCV002505066
dbSNP Id:
rs61751542
ExAC:
9:139400219 G / A
gnomAD v2:
9-139400219-G-A
gnomAD v3:
9-136505767-G-A
gnomAD v4:
9-136505767-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505767G>A , CM000671.2:g.136505767G>A | GRCh38 |
| NC_000009.11:g.139400219G>A , CM000671.1:g.139400219G>A | GRCh37 |
| NC_000009.10:g.138520040G>A | NCBI36 |
| NG_007458.1:g.45020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.1936C>T | ||
| ENST00000651671.1:c.4129C>T MANE Select | ENSP00000498587.1:p.Pro1377Ser | |
| ENST00000679595.1:c.4129C>T | ENSP00000506241.1:p.Pro1377Ser | |
| ENST00000680133.1:c.4015C>T | ENSP00000505319.1:p.Pro1339Ser | |
| ENST00000680218.1:c.4009C>T | ENSP00000505339.1:p.Pro1337Ser | |
| ENST00000680668.1:c.4015C>T | ENSP00000506336.1:p.Pro1339Ser | |
| ENST00000680778.1:c.1726C>T | ENSP00000506033.1:p.Pro576Ser | |
| ENST00000680924.1:c.*1529C>T | ENSP00000506031.1:n.*1529C>T | |
| ENST00000681135.1:c.*1738C>T | ENSP00000506636.1:n.*1738C>T | |
| ENST00000681298.1:n.942C>T | ||
| ENST00000681454.1:c.*3365C>T | ENSP00000505763.1:n.*3365C>T | |
| ENST00000277541.6:c.4129C>T | ENSP00000277541.6:p.Pro1377Ser | |
| NM_017617.3:c.4129C>T | NP_060087.3:p.Pro1377Ser | |
| XM_011518717.1:c.3430C>T | XP_011517019.1:p.Pro1144Ser | |
| NM_017617.5:c.4129C>T MANE Select | NP_060087.3:p.Pro1377Ser | |
| XM_011518717.2:c.3406C>T | XP_011517019.2:p.Pro1136Ser |