Linked Data
ClinVar Variation Id:
475900
dbSNP Id:
rs200646131
ExAC:
6:75812323 G / A
gnomAD v2:
6-75812323-G-A
gnomAD v3:
6-75102607-G-A
gnomAD v4:
6-75102607-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75102607G>A , CM000668.2:g.75102607G>A | GRCh38 |
| NC_000006.11:g.75812323G>A , CM000668.1:g.75812323G>A | GRCh37 |
| NC_000006.10:g.75869043G>A | NCBI36 |
| NG_042181.1:g.108301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.8405C>T MANE Select | ENSP00000325146.8:p.Pro2802Leu | |
| ENST00000322507.12:c.8405C>T | ENSP00000325146.8:p.Pro2802Leu | |
| ENST00000345356.10:c.4913C>T | ENSP00000305147.9:p.Pro1638Leu | |
| ENST00000416123.6:c.8177C>T | ENSP00000412864.2:p.Pro2726Leu | |
| ENST00000425443.6:c.1319C>T | ENSP00000399812.2:p.Pro440Leu | |
| ENST00000483888.6:c.8405C>T | ENSP00000421216.1:p.Pro2802Leu | |
| ENST00000615798.4:c.4838C>T | ENSP00000483232.1:p.Pro1613Leu | |
| NM_004370.5:c.8405C>T | NP_004361.3:p.Pro2802Leu | |
| NM_080645.2:c.4913C>T | NP_542376.2:p.Pro1638Leu | |
| XM_011535434.1:c.8405C>T | XP_011533736.1:p.Pro2802Leu | |
| XM_011535435.1:c.8132C>T | XP_011533737.1:p.Pro2711Leu | |
| XM_011535436.1:c.4913C>T | XP_011533738.1:p.Pro1638Leu | |
| XM_011535436.2:c.4913C>T | XP_011533738.1:p.Pro1638Leu | |
| XM_017010252.2:c.8369C>T | XP_016865741.1:p.Pro2790Leu | |
| NM_004370.6:c.8405C>T MANE Select | NP_004361.3:p.Pro2802Leu | |
| NM_080645.3:c.4913C>T | NP_542376.2:p.Pro1638Leu |