Linked Data
dbSNP Id:
rs778734917
ExAC:
6:107955800 C / A
gnomAD v2:
6-107955800-C-A
gnomAD v4:
6-107634596-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634596C>A , CM000668.2:g.107634596C>A | GRCh38 |
| NC_000006.11:g.107955800C>A , CM000668.1:g.107955800C>A | GRCh37 |
| NC_000006.10:g.108062493C>A | NCBI36 |
| NG_028200.1:g.149484C>A | |
| NG_028200.2:g.149484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1752C>A MANE Select | ENSP00000318900.5:p.Pro584= | |
| ENST00000317357.9:c.1752C>A | ENSP00000318900.5:p.Pro584= | |
| NM_018013.3:c.1752C>A | NP_060483.3:p.Pro584= | |
| XM_005267041.3:c.1905C>A | XP_005267098.1:p.Pro635= | |
| XM_005267042.3:c.1809C>A | XP_005267099.1:p.Pro603= | |
| XM_011535920.1:c.1905C>A | XP_011534222.1:p.Pro635= | |
| XM_011535921.1:c.1791C>A | XP_011534223.1:p.Pro597= | |
| XM_011535922.1:c.1164C>A | XP_011534224.1:p.Pro388= | |
| XM_011535923.1:c.975C>A | XP_011534225.1:p.Pro325= | |
| XM_005267041.4:c.1905C>A | XP_005267098.1:p.Pro635= | |
| XM_005267042.4:c.1809C>A | XP_005267099.1:p.Pro603= | |
| XM_011535920.2:c.1905C>A | XP_011534222.1:p.Pro635= | |
| XM_011535921.2:c.1791C>A | XP_011534223.1:p.Pro597= | |
| XM_011535923.2:c.975C>A | XP_011534225.1:p.Pro325= | |
| XM_017010991.1:c.1305C>A | XP_016866480.1:p.Pro435= | |
| XM_017010992.1:c.1305C>A | XP_016866481.1:p.Pro435= | |
| XM_017010993.1:c.1305C>A | XP_016866482.1:p.Pro435= | |
| XM_017010994.1:c.1305C>A | XP_016866483.1:p.Pro435= | |
| NM_018013.4:c.1752C>A MANE Select | NP_060483.3:p.Pro584= |