Linked Data
ClinVar Variation Id:
542500
dbSNP Id:
rs199724285
ExAC:
6:75825507 G / A
gnomAD v2:
6-75825507-G-A
gnomAD v3:
6-75115791-G-A
gnomAD v4:
6-75115791-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75115791G>A , CM000668.2:g.75115791G>A | GRCh38 |
| NC_000006.11:g.75825507G>A , CM000668.1:g.75825507G>A | GRCh37 |
| NC_000006.10:g.75882227G>A | NCBI36 |
| NG_042181.1:g.95117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.7690C>T MANE Select | ENSP00000325146.8:p.Pro2564Ser | |
| ENST00000322507.12:c.7690C>T | ENSP00000325146.8:p.Pro2564Ser | |
| ENST00000345356.10:c.4198C>T | ENSP00000305147.9:p.Pro1400Ser | |
| ENST00000416123.6:c.7690C>T | ENSP00000412864.2:p.Pro2564Ser | |
| ENST00000425443.6:c.604C>T | ENSP00000399812.2:p.Pro202Ser | |
| ENST00000483888.6:c.7690C>T | ENSP00000421216.1:p.Pro2564Ser | |
| ENST00000493109.2:c.352C>T | ENSP00000423423.1:p.Pro118Ser | |
| ENST00000615798.4:c.4123C>T | ENSP00000483232.1:p.Pro1375Ser | |
| NM_004370.5:c.7690C>T | NP_004361.3:p.Pro2564Ser | |
| NM_080645.2:c.4198C>T | NP_542376.2:p.Pro1400Ser | |
| XM_011535434.1:c.7690C>T | XP_011533736.1:p.Pro2564Ser | |
| XM_011535435.1:c.7417C>T | XP_011533737.1:p.Pro2473Ser | |
| XM_011535436.1:c.4198C>T | XP_011533738.1:p.Pro1400Ser | |
| XM_011535436.2:c.4198C>T | XP_011533738.1:p.Pro1400Ser | |
| XM_017010252.2:c.7654C>T | XP_016865741.1:p.Pro2552Ser | |
| NM_004370.6:c.7690C>T MANE Select | NP_004361.3:p.Pro2564Ser | |
| NM_080645.3:c.4198C>T | NP_542376.2:p.Pro1400Ser |