Linked Data
dbSNP Id:
rs1276017706
gnomAD v2:
17-7533579-T-C
gnomAD v3:
17-7630261-T-C
gnomAD v4:
17-7630261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7630261T>C , CM000679.2:g.7630261T>C | GRCh38 |
| NC_000017.10:g.7533579T>C , CM000679.1:g.7533579T>C | GRCh37 |
| NC_000017.9:g.7474304T>C | NCBI36 |
| NG_011981.2:g.21198T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380450.9:c.89T>C MANE Select | ENSP00000369816.4:p.Leu30Pro | |
| ENST00000340624.9:c.-63-155T>C | ENSP00000345675.6:n.-63-155T>C | |
| ENST00000380450.8:c.89T>C | ENSP00000369816.4:p.Leu30Pro | |
| ENST00000416273.7:c.89T>C | ENSP00000388867.3:p.Leu30Pro | |
| ENST00000441599.6:c.89T>C | ENSP00000393426.2:p.Leu30Pro | |
| ENST00000570353.5:c.89T>C | ENSP00000458199.1:p.Leu30Pro | |
| ENST00000570527.5:c.89T>C | ENSP00000461162.1:p.Leu30Pro | |
| ENST00000570547.5:c.-61-157T>C | ENSP00000458875.1:n.-61-157T>C | |
| ENST00000571153.5:c.8T>C | ENSP00000458858.1:p.Leu3Pro | |
| ENST00000572182.5:c.-61-157T>C | ENSP00000458816.1:n.-61-157T>C | |
| ENST00000572262.5:c.-61-157T>C | ENSP00000459999.1:n.-61-157T>C | |
| ENST00000574539.5:c.-61-157T>C | ENSP00000458181.1:n.-61-157T>C | |
| ENST00000575314.5:c.-61-157T>C | ENSP00000458559.1:n.-61-157T>C | |
| ENST00000575618.5:c.8T>C | ENSP00000459826.1:p.Leu3Pro | |
| ENST00000575729.5:c.-63-155T>C | ENSP00000458719.1:n.-63-155T>C | |
| ENST00000575903.5:c.89T>C | ENSP00000458973.1:p.Leu30Pro | |
| ENST00000576152.1:c.8T>C | ENSP00000461743.1:p.Leu3Pro | |
| ENST00000576478.5:c.-61-157T>C | ENSP00000461133.1:n.-61-157T>C | |
| ENST00000576728.5:c.-61-157T>C | ENSP00000459620.1:n.-61-157T>C | |
| ENST00000576830.5:c.8T>C | ENSP00000460219.1:p.Leu3Pro | |
| NM_001040.4:c.89T>C | NP_001031.2:p.Leu30Pro | |
| NM_001146279.2:c.89T>C | NP_001139751.1:p.Leu30Pro | |
| NM_001146280.2:c.89T>C | NP_001139752.1:p.Leu30Pro | |
| NM_001146281.2:c.89T>C | NP_001139753.1:p.Leu30Pro | |
| NM_001289113.1:c.-63-155T>C | NP_001276042.1:n.-63-155T>C | |
| NM_001289114.1:c.-61-157T>C | NP_001276043.1:n.-61-157T>C | |
| NM_001289115.1:c.-63-155T>C | NP_001276044.1:n.-63-155T>C | |
| NM_001289116.1:c.-168T>C | NP_001276045.1:n.-168T>C | |
| XM_011523991.1:c.89T>C | XP_011522293.1:p.Leu30Pro | |
| NM_001040.5:c.89T>C MANE Select | NP_001031.2:p.Leu30Pro | |
| NM_001146279.3:c.89T>C | NP_001139751.1:p.Leu30Pro | |
| NM_001146280.3:c.89T>C | NP_001139752.1:p.Leu30Pro | |
| NM_001289116.2:c.-168T>C | NP_001276045.1:n.-168T>C | |
| NM_001146281.3:c.89T>C | NP_001139753.1:p.Leu30Pro | |
| NM_001289113.2:c.-63-155T>C | NP_001276042.1:n.-63-155T>C | |
| NM_001289114.2:c.-61-157T>C | NP_001276043.1:n.-61-157T>C | |
| NM_001289115.2:c.-63-155T>C | NP_001276044.1:n.-63-155T>C |