Linked Data
ClinVar Variation Id:
542491
dbSNP Id:
rs55997127
ExAC:
6:75833070 G / C
gnomAD v2:
6-75833070-G-C
gnomAD v3:
6-75123354-G-C
gnomAD v4:
6-75123354-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75123354G>C , CM000668.2:g.75123354G>C | GRCh38 |
| NC_000006.11:g.75833070G>C , CM000668.1:g.75833070G>C | GRCh37 |
| NC_000006.10:g.75889790G>C | NCBI36 |
| NG_042181.1:g.87554C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.6922C>G MANE Select | ENSP00000325146.8:p.Pro2308Ala | |
| ENST00000322507.12:c.6922C>G | ENSP00000325146.8:p.Pro2308Ala | |
| ENST00000345356.10:c.3430C>G | ENSP00000305147.9:p.Pro1144Ala | |
| ENST00000416123.6:c.6922C>G | ENSP00000412864.2:p.Pro2308Ala | |
| ENST00000483888.6:c.6922C>G | ENSP00000421216.1:p.Pro2308Ala | |
| ENST00000615798.4:c.3355C>G | ENSP00000483232.1:p.Pro1119Ala | |
| NM_004370.5:c.6922C>G | NP_004361.3:p.Pro2308Ala | |
| NM_080645.2:c.3430C>G | NP_542376.2:p.Pro1144Ala | |
| XM_011535434.1:c.6922C>G | XP_011533736.1:p.Pro2308Ala | |
| XM_011535435.1:c.6649C>G | XP_011533737.1:p.Pro2217Ala | |
| XM_011535436.1:c.3430C>G | XP_011533738.1:p.Pro1144Ala | |
| XM_011535436.2:c.3430C>G | XP_011533738.1:p.Pro1144Ala | |
| XM_017010252.2:c.6886C>G | XP_016865741.1:p.Pro2296Ala | |
| NM_004370.6:c.6922C>G MANE Select | NP_004361.3:p.Pro2308Ala | |
| NM_080645.3:c.3430C>G | NP_542376.2:p.Pro1144Ala |