Linked Data
ClinVar Variation Id:
2950276
ClinVar RCV Id:
RCV003807634
dbSNP Id:
rs1428340244
gnomAD v4:
19-13073513-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13073513T>C , CM000681.2:g.13073513T>C | GRCh38 |
| NC_000019.9:g.13184327T>C , CM000681.1:g.13184327T>C | GRCh37 |
| NC_000019.8:g.13045327T>C | NCBI36 |
| NG_032925.2:g.82744T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358552.8:c.694+17T>C | ENSP00000351354.5:n.694+17T>C | |
| ENST00000622520.2:c.694+17T>C | ENSP00000481181.2:n.694+17T>C | |
| ENST00000693124.1:c.515+17T>C | ||
| ENST00000592199.6:c.697+17T>C MANE Select | ENSP00000467512.1:n.697+17T>C | |
| ENST00000676441.1:c.721+17T>C | ENSP00000502554.1:n.721+17T>C | |
| ENST00000358552.7:c.706+17T>C | ENSP00000351354.4:n.706+17T>C | |
| ENST00000360105.8:c.706+17T>C | ENSP00000353219.4:n.706+17T>C | |
| ENST00000397661.6:c.697+17T>C | ENSP00000380781.2:n.697+17T>C | |
| ENST00000585382.5:c.*66+17T>C | ENSP00000466605.1:n.*66+17T>C | |
| ENST00000585575.5:c.673+17T>C | ENSP00000468794.1:n.673+17T>C | |
| ENST00000586797.5:c.*528+17T>C | ENSP00000467536.1:n.*528+17T>C | |
| ENST00000587260.1:c.694+17T>C | ENSP00000467785.1:n.694+17T>C | |
| ENST00000587760.5:c.673+17T>C | ENSP00000466389.1:n.673+17T>C | |
| ENST00000588228.5:c.556+17T>C | ENSP00000466735.1:n.556+17T>C | |
| ENST00000588680.1:n.205+17T>C | ||
| ENST00000592199.5:c.697+17T>C | ENSP00000467512.1:n.697+17T>C | |
| NM_001271043.2:c.721+17T>C | NP_001257972.1:n.721+17T>C | |
| NM_001271044.2:c.673+17T>C | NP_001257973.1:n.673+17T>C | |
| NM_002501.3:c.697+17T>C | NP_002492.2:n.697+17T>C | |
| XM_005259917.3:c.874+17T>C | XP_005259974.1:n.874+17T>C | |
| XM_005259918.3:c.697+17T>C | XP_005259975.1:n.697+17T>C | |
| XM_005259919.3:c.874+17T>C | XP_005259976.1:n.874+17T>C | |
| XM_005259920.3:c.673+17T>C | XP_005259977.1:n.673+17T>C | |
| XM_005259921.3:c.874+17T>C | XP_005259978.1:n.874+17T>C | |
| XM_005259922.3:c.874+17T>C | XP_005259979.1:n.874+17T>C | |
| XM_006722760.2:c.874+17T>C | XP_006722823.1:n.874+17T>C | |
| XM_011528040.1:c.745+17T>C | XP_011526342.1:n.745+17T>C | |
| NM_001365902.1:c.697+17T>C | NP_001352831.1:n.697+17T>C | |
| NM_001365982.1:c.697+17T>C | NP_001352911.1:n.697+17T>C | |
| NM_001365983.1:c.556+17T>C | NP_001352912.1:n.556+17T>C | |
| NM_001365984.1:c.694+17T>C | NP_001352913.1:n.694+17T>C | |
| NM_001365985.1:c.694+17T>C | NP_001352914.1:n.694+17T>C | |
| XM_005259917.4:c.874+17T>C | XP_005259974.1:n.874+17T>C | |
| NM_001271044.3:c.673+17T>C | NP_001257973.1:n.673+17T>C | |
| NM_001365902.2:c.697+17T>C | NP_001352831.1:n.697+17T>C | |
| NM_001365982.2:c.697+17T>C | NP_001352911.1:n.697+17T>C | |
| NM_001365983.2:c.556+17T>C | NP_001352912.1:n.556+17T>C | |
| NM_001365984.2:c.694+17T>C | NP_001352913.1:n.694+17T>C | |
| NM_001365985.2:c.694+17T>C | NP_001352914.1:n.694+17T>C | |
| NM_002501.4:c.697+17T>C | NP_002492.2:n.697+17T>C | |
| NM_001365902.3:c.697+17T>C MANE Select | NP_001352831.1:n.697+17T>C | |
| NM_001378404.1:c.673+17T>C | NP_001365333.1:n.673+17T>C | |
| NM_001378405.1:c.745+17T>C | NP_001365334.1:n.745+17T>C |