Linked Data
ClinVar Variation Id:
542516
dbSNP Id:
rs749754621
ExAC:
6:75801110 T / A
gnomAD v2:
6-75801110-T-A
gnomAD v3:
6-75091394-T-A
gnomAD v4:
6-75091394-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75091394T>A , CM000668.2:g.75091394T>A | GRCh38 |
| NC_000006.11:g.75801110T>A , CM000668.1:g.75801110T>A | GRCh37 |
| NC_000006.10:g.75857830T>A | NCBI36 |
| NG_042181.1:g.119514A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.8686-5A>T MANE Select | ENSP00000325146.8:n.8686-5A>T | |
| ENST00000322507.12:c.8686-5A>T | ENSP00000325146.8:n.8686-5A>T | |
| ENST00000345356.10:c.5194-5A>T | ENSP00000305147.9:n.5194-5A>T | |
| ENST00000416123.6:c.8458-5A>T | ENSP00000412864.2:n.8458-5A>T | |
| ENST00000425443.6:c.1600-5A>T | ENSP00000399812.2:n.1600-5A>T | |
| ENST00000483888.6:c.8674-5A>T | ENSP00000421216.1:n.8674-5A>T | |
| ENST00000511023.1:n.301-5A>T | ||
| ENST00000615798.4:c.5119-5A>T | ENSP00000483232.1:n.5119-5A>T | |
| NM_004370.5:c.8686-5A>T | NP_004361.3:n.8686-5A>T | |
| NM_080645.2:c.5194-5A>T | NP_542376.2:n.5194-5A>T | |
| XM_011535434.1:c.8686-5A>T | XP_011533736.1:n.8686-5A>T | |
| XM_011535435.1:c.8413-5A>T | XP_011533737.1:n.8413-5A>T | |
| XM_011535436.1:c.5194-5A>T | XP_011533738.1:n.5194-5A>T | |
| XM_011535436.2:c.5194-5A>T | XP_011533738.1:n.5194-5A>T | |
| XM_017010252.2:c.8650-5A>T | XP_016865741.1:n.8650-5A>T | |
| NM_004370.6:c.8686-5A>T MANE Select | NP_004361.3:n.8686-5A>T | |
| NM_080645.3:c.5194-5A>T | NP_542376.2:n.5194-5A>T |