Linked Data
ClinVar Variation Id:
3044327
ClinVar RCV Id:
RCV003939589
dbSNP Id:
rs774801789
gnomAD v2:
6-107955995-G-T
gnomAD v3:
6-107634791-G-T
gnomAD v4:
6-107634791-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634791G>T , CM000668.2:g.107634791G>T | GRCh38 |
| NC_000006.11:g.107955995G>T , CM000668.1:g.107955995G>T | GRCh37 |
| NC_000006.10:g.108062688G>T | NCBI36 |
| NG_028200.1:g.149679G>T | |
| NG_028200.2:g.149679G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1947G>T MANE Select | ENSP00000318900.5:p.Pro649= | |
| ENST00000317357.9:c.1947G>T | ENSP00000318900.5:p.Pro649= | |
| NM_018013.3:c.1947G>T | NP_060483.3:p.Pro649= | |
| XM_005267041.3:c.2100G>T | XP_005267098.1:p.Pro700= | |
| XM_005267042.3:c.2004G>T | XP_005267099.1:p.Pro668= | |
| XM_011535920.1:c.2100G>T | XP_011534222.1:p.Pro700= | |
| XM_011535921.1:c.1986G>T | XP_011534223.1:p.Pro662= | |
| XM_011535922.1:c.1359G>T | XP_011534224.1:p.Pro453= | |
| XM_011535923.1:c.1170G>T | XP_011534225.1:p.Pro390= | |
| XM_005267041.4:c.2100G>T | XP_005267098.1:p.Pro700= | |
| XM_005267042.4:c.2004G>T | XP_005267099.1:p.Pro668= | |
| XM_011535920.2:c.2100G>T | XP_011534222.1:p.Pro700= | |
| XM_011535921.2:c.1986G>T | XP_011534223.1:p.Pro662= | |
| XM_011535923.2:c.1170G>T | XP_011534225.1:p.Pro390= | |
| XM_017010991.1:c.1500G>T | XP_016866480.1:p.Pro500= | |
| XM_017010992.1:c.1500G>T | XP_016866481.1:p.Pro500= | |
| XM_017010993.1:c.1500G>T | XP_016866482.1:p.Pro500= | |
| XM_017010994.1:c.1500G>T | XP_016866483.1:p.Pro500= | |
| NM_018013.4:c.1947G>T MANE Select | NP_060483.3:p.Pro649= |