Linked Data
dbSNP Id:
rs137863628
ExAC:
11:48145169 G / A
gnomAD v2:
11-48145169-G-A
gnomAD v3:
11-48123617-G-A
gnomAD v4:
11-48123617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48123617G>A , CM000673.2:g.48123617G>A | GRCh38 |
| NC_000011.9:g.48145169G>A , CM000673.1:g.48145169G>A | GRCh37 |
| NC_000011.8:g.48101745G>A | NCBI36 |
| NG_012209.1:g.148060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.963G>A | ENSP00000514003.1:p.Pro321= | |
| ENST00000418331.7:c.621G>A MANE Select | ENSP00000400010.2:p.Pro207= | |
| ENST00000418331.6:c.621G>A | ENSP00000400010.2:p.Pro207= | |
| ENST00000440289.6:c.621G>A | ENSP00000409733.2:p.Pro207= | |
| ENST00000527952.1:c.357G>A | ENSP00000435618.1:p.Pro119= | |
| ENST00000613246.4:c.621G>A | ENSP00000477933.1:p.Pro207= | |
| ENST00000615445.4:c.621G>A | ENSP00000479342.1:p.Pro207= | |
| NM_001098503.1:c.621G>A | NP_001091973.1:p.Pro207= | |
| NM_002843.3:c.621G>A | NP_002834.3:p.Pro207= | |
| XM_011520249.1:c.654G>A | XP_011518551.1:p.Pro218= | |
| XR_930883.1:n.971G>A | ||
| XM_017018083.1:c.699G>A | XP_016873572.1:p.Pro233= | |
| XM_017018084.1:c.642G>A | XP_016873573.1:p.Pro214= | |
| XM_017018085.1:c.573G>A | XP_016873574.1:p.Pro191= | |
| XR_930883.2:n.1030G>A | ||
| NM_002843.4:c.621G>A MANE Select | NP_002834.3:p.Pro207= | |
| NM_001098503.2:c.621G>A | NP_001091973.1:p.Pro207= |