Linked Data
dbSNP Id:
rs1770925601
gnomAD v3:
6-107634746-G-C
gnomAD v4:
6-107634746-G-C
MyVariant Identifiers:
chr6:g.107955950G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634746G>C , CM000668.2:g.107634746G>C | GRCh38 |
| NC_000006.11:g.107955950G>C , CM000668.1:g.107955950G>C | GRCh37 |
| NC_000006.10:g.108062643G>C | NCBI36 |
| NG_028200.1:g.149634G>C | |
| NG_028200.2:g.149634G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1902G>C MANE Select | ENSP00000318900.5:p.Pro634= | |
| ENST00000317357.9:c.1902G>C | ENSP00000318900.5:p.Pro634= | |
| NM_018013.3:c.1902G>C | NP_060483.3:p.Pro634= | |
| XM_005267041.3:c.2055G>C | XP_005267098.1:p.Pro685= | |
| XM_005267042.3:c.1959G>C | XP_005267099.1:p.Pro653= | |
| XM_011535920.1:c.2055G>C | XP_011534222.1:p.Pro685= | |
| XM_011535921.1:c.1941G>C | XP_011534223.1:p.Pro647= | |
| XM_011535922.1:c.1314G>C | XP_011534224.1:p.Pro438= | |
| XM_011535923.1:c.1125G>C | XP_011534225.1:p.Pro375= | |
| XM_005267041.4:c.2055G>C | XP_005267098.1:p.Pro685= | |
| XM_005267042.4:c.1959G>C | XP_005267099.1:p.Pro653= | |
| XM_011535920.2:c.2055G>C | XP_011534222.1:p.Pro685= | |
| XM_011535921.2:c.1941G>C | XP_011534223.1:p.Pro647= | |
| XM_011535923.2:c.1125G>C | XP_011534225.1:p.Pro375= | |
| XM_017010991.1:c.1455G>C | XP_016866480.1:p.Pro485= | |
| XM_017010992.1:c.1455G>C | XP_016866481.1:p.Pro485= | |
| XM_017010993.1:c.1455G>C | XP_016866482.1:p.Pro485= | |
| XM_017010994.1:c.1455G>C | XP_016866483.1:p.Pro485= | |
| NM_018013.4:c.1902G>C MANE Select | NP_060483.3:p.Pro634= |