Linked Data
ClinVar Variation Id:
598309
ClinVar RCV Id:
RCV000734674
dbSNP Id:
rs760428177
gnomAD v2:
5-13692215-G-T
gnomAD v3:
5-13692106-G-T
gnomAD v4:
5-13692106-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692106G>T , CM000667.2:g.13692106G>T | GRCh38 |
| NC_000005.9:g.13692215G>T , CM000667.1:g.13692215G>T | GRCh37 |
| NC_000005.8:g.13745215G>T | NCBI36 |
| NG_013081.1:g.257375C>A | |
| NG_013081.2:g.257375C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1086C>A | ||
| ENST00000265104.5:c.13753C>A MANE Select | ENSP00000265104.4:p.Pro4585Thr | |
| ENST00000681290.1:c.13708C>A | ENSP00000505288.1:p.Pro4570Thr | |
| ENST00000265104.4:c.13753C>A | ENSP00000265104.4:p.Pro4585Thr | |
| NM_001369.2:c.13753C>A | NP_001360.1:p.Pro4585Thr | |
| XM_005248262.2:c.13708C>A | XP_005248319.1:p.Pro4570Thr | |
| XM_005248262.3:c.13861C>A | XP_005248319.2:p.Pro4621Thr | |
| XM_017009177.1:c.13441C>A | XP_016864666.1:p.Pro4481Thr | |
| XM_017009178.1:c.12766C>A | XP_016864667.1:p.Pro4256Thr | |
| XM_017009179.2:c.12766C>A | XP_016864668.1:p.Pro4256Thr | |
| XM_017009185.1:c.8950C>A | XP_016864674.1:p.Pro2984Thr | |
| XM_017009186.1:c.8503C>A | XP_016864675.1:p.Pro2835Thr | |
| XM_017009188.1:c.7840C>A | XP_016864677.1:p.Pro2614Thr | |
| XM_024454388.1:c.12766C>A | XP_024310156.1:p.Pro4256Thr | |
| XM_024454389.1:c.12355C>A | XP_024310157.1:p.Pro4119Thr | |
| NM_001369.3:c.13753C>A MANE Select | NP_001360.1:p.Pro4585Thr |