Linked Data
dbSNP Id:
rs1218767117
gnomAD v2:
18-10762921-A-G
gnomAD v3:
18-10762923-A-G
gnomAD v4:
18-10762923-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10762923A>G , CM000680.2:g.10762923A>G | GRCh38 |
| NC_000018.9:g.10762921A>G , CM000680.1:g.10762921A>G | GRCh37 |
| NC_000018.8:g.10752921A>G | NCBI36 |
| NG_034005.1:g.390840T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.3122T>C | ENSP00000372900.4:p.Leu1041Ser | |
| ENST00000686869.1:n.3179T>C | ||
| ENST00000674853.1:c.3122T>C MANE Select | ENSP00000501957.1:p.Leu1041Ser | |
| ENST00000302079.10:c.3047T>C | ENSP00000303316.6:p.Leu1016Ser | |
| ENST00000383408.6:c.2900T>C | ENSP00000372900.3:p.Leu967Ser | |
| ENST00000503781.7:c.3047T>C | ENSP00000421377.3:p.Leu1016Ser | |
| ENST00000580640.5:c.3122T>C | ENSP00000463094.1:p.Leu1041Ser | |
| ENST00000582913.5:c.3089T>C | ENSP00000462115.1:p.Leu1030Ser | |
| NM_022068.3:c.3047T>C | NP_071351.2:p.Leu1016Ser | |
| XM_011525723.1:c.3179T>C | XP_011524025.1:p.Leu1060Ser | |
| XM_011525724.1:c.3122T>C | XP_011524026.1:p.Leu1041Ser | |
| XM_011525725.1:c.3089T>C | XP_011524027.1:p.Leu1030Ser | |
| XM_011525726.1:c.3179T>C | XP_011524028.1:p.Leu1060Ser | |
| XM_011525727.1:c.3179T>C | XP_011524029.1:p.Leu1060Ser | |
| XM_011525723.3:c.3179T>C | XP_011524025.1:p.Leu1060Ser | |
| XM_011525724.3:c.3122T>C | XP_011524026.1:p.Leu1041Ser | |
| XM_011525725.3:c.3089T>C | XP_011524027.1:p.Leu1030Ser | |
| XM_011525726.3:c.3179T>C | XP_011524028.1:p.Leu1060Ser | |
| XM_017025918.2:c.3140T>C | XP_016881407.1:p.Leu1047Ser | |
| XR_001753259.2:n.4176T>C | ||
| NM_001378183.1:c.3122T>C MANE Select | NP_001365112.1:p.Leu1041Ser | |
| NM_022068.4:c.3047T>C | NP_071351.2:p.Leu1016Ser |