Linked Data
dbSNP Id:
rs760212628
ExAC:
3:49160677 A / G
gnomAD v2:
3-49160677-A-G
gnomAD v4:
3-49123244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123244A>G , CM000665.2:g.49123244A>G | GRCh38 |
| NC_000003.11:g.49160677A>G , CM000665.1:g.49160677A>G | GRCh37 |
| NC_000003.10:g.49135681A>G | NCBI36 |
| NG_008094.1:g.14923T>C | |
| NG_054716.1:g.2695T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4112T>C MANE Select | ENSP00000307156.4:p.Leu1371Pro | |
| ENST00000305544.8:c.4112T>C | ENSP00000307156.4:p.Leu1371Pro | |
| ENST00000418109.5:c.4112T>C | ENSP00000388325.1:p.Leu1371Pro | |
| ENST00000469665.1:n.342T>C | ||
| NM_002292.3:c.4112T>C | NP_002283.3:p.Leu1371Pro | |
| XM_005265127.3:c.4112T>C | XP_005265184.1:p.Leu1371Pro | |
| XM_005265127.4:c.4112T>C | XP_005265184.1:p.Leu1371Pro | |
| NM_002292.4:c.4112T>C MANE Select | NP_002283.3:p.Leu1371Pro |