Linked Data
dbSNP Id:
rs374122877
gnomAD v2:
1-173873039-A-G
gnomAD v3:
1-173903901-A-G
gnomAD v4:
1-173903901-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903901A>G , CM000663.2:g.173903901A>G | GRCh38 |
| NC_000001.10:g.173873039A>G , CM000663.1:g.173873039A>G | GRCh37 |
| NC_000001.9:g.172139662A>G | NCBI36 |
| NG_012462.1:g.18478T>C , LRG_577:g.18478T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1383T>C MANE Select | ENSP00000356671.3:p.Pro461= | |
| ENST00000367698.3:c.1383T>C | ENSP00000356671.3:p.Pro461= | |
| ENST00000617423.4:c.768T>C | ENSP00000478688.1:p.Pro256= | |
| NM_000488.3:c.1383T>C , LRG_577t1:c.1383T>C | NP_000479.1:p.Pro461= | |
| XM_005245198.2:c.1239T>C | XP_005245255.1:p.Pro413= | |
| NM_001365052.1:c.1239T>C | NP_001351981.1:p.Pro413= | |
| NM_000488.4:c.1383T>C MANE Select | NP_000479.1:p.Pro461= | |
| NM_001365052.2:c.1239T>C | NP_001351981.1:p.Pro413= | |
| NM_001386302.1:c.1506T>C | NP_001373231.1:p.Pro502= | |
| NM_001386303.1:c.1464T>C | NP_001373232.1:p.Pro488= | |
| NM_001386304.1:c.1362T>C | NP_001373233.1:p.Pro454= | |
| NM_001386305.1:c.1326T>C | NP_001373234.1:p.Pro442= | |
| NM_001386306.1:c.1167T>C | NP_001373235.1:p.Pro389= |