Linked Data
dbSNP Id:
rs772981336
ExAC:
16:2156597 G / C
gnomAD v2:
16-2156597-G-C
gnomAD v4:
16-2106596-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106596G>C , CM000678.2:g.2106596G>C | GRCh38 |
| NC_000016.9:g.2156597G>C , CM000678.1:g.2156597G>C | GRCh37 |
| NC_000016.8:g.2096598G>C | NCBI36 |
| NG_008617.1:g.34303C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7291C>G MANE Select | ENSP00000262304.4:p.Leu2431Val | |
| ENST00000262304.8:c.7291C>G | ENSP00000262304.4:p.Leu2431Val | |
| ENST00000415938.7:n.536C>G | ||
| ENST00000423118.5:c.7291C>G | ENSP00000399501.1:p.Leu2431Val | |
| ENST00000483024.1:c.459C>G | ||
| ENST00000483558.5:n.350C>G | ||
| ENST00000483731.5:n.1016C>G | ||
| ENST00000486339.6:n.1037C>G | ||
| ENST00000487932.5:c.1978C>G | ENSP00000457132.1:p.Leu660Val | |
| ENST00000496574.6:n.1294C>G | ||
| ENST00000565639.6:n.999C>G | ||
| ENST00000568591.5:c.2452C>G | ENSP00000457162.1:n.2452C>G | |
| ENST00000569983.5:n.647C>G | ||
| NM_000296.3:c.7291C>G | NP_000287.3:p.Leu2431Val | |
| NM_001009944.2:c.7291C>G | NP_001009944.2:p.Leu2431Val | |
| XM_005255370.2:c.4246C>G | XP_005255427.1:p.Leu1416Val | |
| XM_011522525.1:c.7369C>G | XP_011520827.1:p.Leu2457Val | |
| XM_011522526.1:c.7369C>G | XP_011520828.1:p.Leu2457Val | |
| XM_011522527.1:c.7369C>G | XP_011520829.1:p.Leu2457Val | |
| XM_011522528.1:c.7345C>G | XP_011520830.1:p.Leu2449Val | |
| XM_011522529.1:c.7345C>G | XP_011520831.1:p.Leu2449Val | |
| XM_011522530.1:c.7315C>G | XP_011520832.1:p.Leu2439Val | |
| XM_011522531.1:c.7297C>G | XP_011520833.1:p.Leu2433Val | |
| XM_011522532.1:c.7243C>G | XP_011520834.1:p.Leu2415Val | |
| XM_011522533.1:c.7162C>G | XP_011520835.1:p.Leu2388Val | |
| XM_011522534.1:c.7105C>G | XP_011520836.1:p.Leu2369Val | |
| XM_011522535.1:c.5191C>G | XP_011520837.1:p.Leu1731Val | |
| XM_011522536.1:c.7369C>G | XP_011520838.1:p.Leu2457Val | |
| XM_011522537.1:c.4369C>G | XP_011520839.1:p.Leu1457Val | |
| XR_932867.1:n.7384C>G | ||
| XR_932868.1:n.7384C>G | ||
| XR_932869.1:n.7384C>G | ||
| XR_932870.1:n.7384C>G | ||
| XM_005255370.3:c.4246C>G | XP_005255427.1:p.Leu1416Val | |
| XM_011522528.3:c.7345C>G | XP_011520830.1:p.Leu2449Val | |
| XM_011522529.2:c.7345C>G | XP_011520831.1:p.Leu2449Val | |
| XM_011522537.2:c.4369C>G | XP_011520839.1:p.Leu1457Val | |
| XM_024450298.1:c.7411C>G | XP_024306066.1:p.Leu2471Val | |
| XM_024450299.1:c.7339C>G | XP_024306067.1:p.Leu2447Val | |
| XM_024450300.1:c.7201C>G | XP_024306068.1:p.Leu2401Val | |
| XM_024450301.1:c.5287C>G | XP_024306069.1:p.Leu1763Val | |
| NM_000296.4:c.7291C>G | NP_000287.4:p.Leu2431Val | |
| NM_001009944.3:c.7291C>G MANE Select | NP_001009944.3:p.Leu2431Val |