Linked Data
ClinVar Variation Id:
475884
dbSNP Id:
rs375673671
ExAC:
6:75899319 G / T
gnomAD v2:
6-75899319-G-T
gnomAD v3:
6-75189603-G-T
gnomAD v4:
6-75189603-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75189603G>T , CM000668.2:g.75189603G>T | GRCh38 |
| NC_000006.11:g.75899319G>T , CM000668.1:g.75899319G>T | GRCh37 |
| NC_000006.10:g.75956039G>T | NCBI36 |
| NG_042181.1:g.21305C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.607C>A MANE Select | ENSP00000325146.8:p.Leu203Ile | |
| ENST00000322507.12:c.607C>A | ENSP00000325146.8:p.Leu203Ile | |
| ENST00000345356.10:c.73+13117C>A | ENSP00000305147.9:n.73+13117C>A | |
| ENST00000416123.6:c.607C>A | ENSP00000412864.2:p.Leu203Ile | |
| ENST00000483888.6:c.607C>A | ENSP00000421216.1:p.Leu203Ile | |
| ENST00000615798.4:c.-2961C>A | ENSP00000483232.1:n.-2961C>A | |
| NM_004370.5:c.607C>A | NP_004361.3:p.Leu203Ile | |
| NM_080645.2:c.73+13117C>A | NP_542376.2:n.73+13117C>A | |
| XM_011535434.1:c.607C>A | XP_011533736.1:p.Leu203Ile | |
| XM_011535435.1:c.607C>A | XP_011533737.1:p.Leu203Ile | |
| XM_011535436.1:c.73+13117C>A | XP_011533738.1:n.73+13117C>A | |
| XM_011535436.2:c.73+13117C>A | XP_011533738.1:n.73+13117C>A | |
| XM_017010252.2:c.571C>A | XP_016865741.1:p.Leu191Ile | |
| NM_004370.6:c.607C>A MANE Select | NP_004361.3:p.Leu203Ile | |
| NM_080645.3:c.73+13117C>A | NP_542376.2:n.73+13117C>A |