Linked Data
ClinVar Variation Id:
436950
dbSNP Id:
rs56223054
ExAC:
13:75900510 G / A
gnomAD v2:
13-75900510-G-A
gnomAD v3:
13-75326374-G-A
gnomAD v4:
13-75326374-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.75326374G>A , CM000675.2:g.75326374G>A | GRCh38 |
| NC_000013.10:g.75900510G>A , CM000675.1:g.75900510G>A | GRCh37 |
| NC_000013.9:g.74798511G>A | NCBI36 |
| NG_042850.1:g.160795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377636.8:c.1856C>T MANE Select | ENSP00000366863.3:p.Pro619Leu | |
| ENST00000648194.1:c.1313C>T | ENSP00000496983.1:p.Pro438Leu | |
| ENST00000377625.6:c.1856C>T | ENSP00000366852.2:p.Pro619Leu | |
| ENST00000377636.7:c.1856C>T | ENSP00000366863.3:p.Pro619Leu | |
| ENST00000413735.1:c.392C>T | ENSP00000396932.1:p.Pro131Leu | |
| ENST00000431480.6:c.1856C>T | ENSP00000395986.2:p.Pro619Leu | |
| NM_001286658.1:c.1856C>T | NP_001273587.1:p.Pro619Leu | |
| NM_001286658.2:c.1856C>T | NP_001273587.1:p.Pro619Leu | |
| NM_001286659.1:c.1856C>T | NP_001273588.1:p.Pro619Leu | |
| NM_001286659.2:c.1856C>T | NP_001273588.1:p.Pro619Leu | |
| NM_014832.3:c.1856C>T | NP_055647.2:p.Pro619Leu | |
| NM_014832.4:c.1856C>T | NP_055647.2:p.Pro619Leu | |
| XM_005266603.1:c.1781C>T | XP_005266660.1:p.Pro594Leu | |
| XM_005266605.1:c.1313C>T | XP_005266662.1:p.Pro438Leu | |
| XM_006719903.2:c.1382C>T | XP_006719966.1:p.Pro461Leu | |
| XM_011535331.1:c.1745C>T | XP_011533633.1:p.Pro582Leu | |
| XM_005266603.2:c.1781C>T | XP_005266660.1:p.Pro594Leu | |
| XM_005266605.3:c.1313C>T | XP_005266662.1:p.Pro438Leu | |
| XM_006719903.3:c.1382C>T | XP_006719966.1:p.Pro461Leu | |
| XM_011535331.2:c.1745C>T | XP_011533633.1:p.Pro582Leu | |
| XM_017020882.2:c.1313C>T | XP_016876371.1:p.Pro438Leu | |
| XM_017020883.2:c.1202C>T | XP_016876372.1:p.Pro401Leu | |
| NM_014832.5:c.1856C>T MANE Select | NP_055647.2:p.Pro619Leu |