Linked Data
ClinVar Variation Id:
187378
ClinVar RCV Id:
RCV000167101
RCV000410570
RCV000411221
RCV000484413
RCV000474167
RCV002283462
RCV003153455
dbSNP Id:
rs764585550
ExAC:
17:59938900 T / C
gnomAD v2:
17-59938900-T-C
gnomAD v3:
17-61861539-T-C
gnomAD v4:
17-61861539-T-C
PubMed:
PMID:19519404
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61861539T>C , CM000679.2:g.61861539T>C | GRCh38 |
| NC_000017.10:g.59938900T>C , CM000679.1:g.59938900T>C | GRCh37 |
| NC_000017.9:g.57293682T>C | NCBI36 |
| NG_007409.2:g.7021A>G , LRG_300:g.7021A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577913.2:c.1A>G | ENSP00000462274.2:p.Met1Val | |
| ENST00000584322.2:c.1A>G | ENSP00000463272.2:p.Met1Val | |
| ENST00000682369.1:c.1A>G | ENSP00000507450.1:p.Met1Val | |
| ENST00000682453.1:c.1A>G | ENSP00000506943.1:p.Met1Val | |
| ENST00000682477.1:c.1A>G | ENSP00000507075.1:p.Met1Val | |
| ENST00000682589.1:n.1742A>G | ||
| ENST00000682755.1:c.1A>G | ENSP00000507660.1:p.Met1Val | |
| ENST00000682989.1:c.1A>G | ENSP00000507786.1:p.Met1Val | |
| ENST00000683039.1:c.1A>G | ENSP00000508303.1:p.Met1Val | |
| ENST00000683235.1:c.1A>G | ENSP00000507646.1:p.Met1Val | |
| ENST00000683381.1:c.1A>G | ENSP00000508184.1:p.Met1Val | |
| ENST00000683672.1:c.-93+1745A>G | ENSP00000506781.1:n.-93+1745A>G | |
| ENST00000259008.7:c.1A>G MANE Select | ENSP00000259008.2:p.Met1Val | |
| ENST00000259008.6:c.1A>G | ENSP00000259008.2:p.Met1Val | |
| ENST00000577598.5:c.1A>G | ENSP00000464654.1:p.Met1Val | |
| ENST00000577913.1:c.1A>G | ENSP00000462274.1:p.Met1Val | |
| NM_032043.2:c.1A>G , LRG_300t1:c.1A>G | NP_114432.2:p.Met1Val | |
| XM_011525332.1:c.1A>G | XP_011523634.1:p.Met1Val | |
| XM_011525333.1:c.1A>G | XP_011523635.1:p.Met1Val | |
| XM_011525334.1:c.1A>G | XP_011523636.1:p.Met1Val | |
| XM_011525335.1:c.1A>G | XP_011523637.1:p.Met1Val | |
| XM_011525336.1:c.1A>G | XP_011523638.1:p.Met1Val | |
| XM_011525337.1:c.1A>G | XP_011523639.1:p.Met1Val | |
| XM_011525339.1:c.1A>G | XP_011523641.1:p.Met1Val | |
| XM_011525340.1:c.1A>G | XP_011523642.1:p.Met1Val | |
| XM_011525341.1:c.1A>G | XP_011523643.1:p.Met1Val | |
| XM_011525332.3:c.1A>G | XP_011523634.1:p.Met1Val | |
| XM_011525333.3:c.1A>G | XP_011523635.1:p.Met1Val | |
| XM_011525334.2:c.1A>G | XP_011523636.1:p.Met1Val | |
| XM_011525335.3:c.1A>G | XP_011523637.1:p.Met1Val | |
| XM_011525336.2:c.1A>G | XP_011523638.1:p.Met1Val | |
| XM_011525337.2:c.1A>G | XP_011523639.1:p.Met1Val | |
| XM_011525339.3:c.1A>G | XP_011523641.1:p.Met1Val | |
| XM_011525340.3:c.1A>G | XP_011523642.1:p.Met1Val | |
| XM_011525341.3:c.1A>G | XP_011523643.1:p.Met1Val | |
| NM_032043.3:c.1A>G MANE Select | NP_114432.2:p.Met1Val |