Linked Data
ClinVar Variation Id:
544043
dbSNP Id:
rs1284303981
gnomAD v2:
10-69959140-C-A
gnomAD v4:
10-68199383-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199383C>A , CM000672.2:g.68199383C>A | GRCh38 |
| NC_000010.10:g.69959140C>A , CM000672.1:g.69959140C>A | GRCh37 |
| NC_000010.9:g.69629146C>A | NCBI36 |
| NG_032118.1:g.98267C>A , LRG_410:g.98267C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2476C>A | ENSP00000346369.2:p.Pro826Thr | |
| ENST00000540630.6:c.3355C>A | ENSP00000441668.3:p.Pro1119Thr | |
| ENST00000613327.5:c.3301C>A | ENSP00000480757.2:p.Pro1101Thr | |
| ENST00000688812.1:c.*564C>A | ENSP00000510658.1:n.*564C>A | |
| ENST00000690544.1:c.*2572C>A | ENSP00000508989.1:n.*2572C>A | |
| ENST00000358913.10:c.3301C>A MANE Select | ENSP00000351790.5:p.Pro1101Thr | |
| ENST00000354393.6:c.2476C>A | ENSP00000346369.2:p.Pro826Thr | |
| ENST00000358913.9:c.3301C>A | ENSP00000351790.5:p.Pro1101Thr | |
| ENST00000540630.5:c.3301C>A | ENSP00000441668.2:p.Pro1101Thr | |
| ENST00000613327.4:c.2419C>A | ENSP00000480757.1:p.Pro807Thr | |
| NM_001256267.1:c.3301C>A | NP_001243196.1:p.Pro1101Thr | |
| NM_001256268.1:c.2419C>A | NP_001243197.1:p.Pro807Thr | |
| NM_032578.3:c.3301C>A , LRG_410t1:c.3301C>A | NP_115967.2:p.Pro1101Thr | |
| NR_045662.3:n.2728C>A | ||
| NR_045663.3:n.3430C>A | ||
| XM_006718043.2:c.3355C>A | XP_006718106.1:p.Pro1119Thr | |
| XM_011540292.1:c.3331C>A | XP_011538594.1:p.Pro1111Thr | |
| XR_946029.1:n.1804-108G>T | ||
| XM_017016833.1:c.3379C>A | XP_016872322.1:p.Pro1127Thr | |
| XM_017016834.2:c.3301C>A | XP_016872323.1:p.Pro1101Thr | |
| XM_024448236.1:c.2179C>A | XP_024304004.1:p.Pro727Thr | |
| NR_045662.4:n.2838C>A | ||
| NR_045663.4:n.3375C>A | ||
| NM_001256267.2:c.3301C>A | NP_001243196.1:p.Pro1101Thr | |
| NM_001256268.2:c.2419C>A | NP_001243197.1:p.Pro807Thr | |
| NM_032578.4:c.3301C>A MANE Select | NP_115967.2:p.Pro1101Thr |