gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022382 (MID)
Genomes Max Group AF
0.00005286 (AMR)
Exomes Max Group AF
0.00023608 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52053137C>A , CM000668.2:g.52053137C>A | GRCh38 |
| NC_000006.11:g.51917935C>A , CM000668.1:g.51917935C>A | GRCh37 |
| NC_000006.10:g.52025894C>A | NCBI36 |
| NG_008753.1:g.39489G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.2079G>T MANE Select | ENSP00000360158.3:p.Leu693= | |
| ENST00000340994.4:c.2079G>T | ENSP00000341097.4:p.Leu693= | |
| ENST00000371117.7:c.2079G>T | ENSP00000360158.3:p.Leu693= | |
| NM_138694.3:c.2079G>T | NP_619639.3:p.Leu693= | |
| NM_170724.2:c.2079G>T | NP_733842.2:p.Leu693= | |
| XM_011514679.1:c.2079G>T | XP_011512981.1:p.Leu693= | |
| XM_011514680.1:c.2079G>T | XP_011512982.1:p.Leu693= | |
| XM_011514681.1:c.2079G>T | XP_011512983.1:p.Leu693= | |
| XM_011514682.1:c.2079G>T | XP_011512984.1:p.Leu693= | |
| XM_011514683.1:c.2079G>T | XP_011512985.1:p.Leu693= | |
| XM_011514684.1:c.1368G>T | XP_011512986.1:p.Leu456= | |
| XM_011514685.1:c.2079G>T | XP_011512987.1:p.Leu693= | |
| XM_011514686.1:c.2079G>T | XP_011512988.1:p.Leu693= | |
| XM_011514687.1:c.2079G>T | XP_011512989.1:p.Leu693= | |
| XM_011514688.1:c.2079G>T | XP_011512990.1:p.Leu693= | |
| XM_011514689.1:c.2079G>T | XP_011512991.1:p.Leu693= | |
| XM_011514680.3:c.2079G>T | XP_011512982.1:p.Leu693= | |
| XM_011514682.3:c.2079G>T | XP_011512984.1:p.Leu693= | |
| XM_011514683.3:c.2079G>T | XP_011512985.1:p.Leu693= | |
| XM_011514684.3:c.1368G>T | XP_011512986.1:p.Leu456= | |
| XM_011514686.2:c.2079G>T | XP_011512988.1:p.Leu693= | |
| XM_011514688.2:c.2079G>T | XP_011512990.1:p.Leu693= | |
| XM_017010944.2:c.2079G>T | XP_016866433.1:p.Leu693= | |
| XM_017010945.2:c.2004G>T | XP_016866434.1:p.Leu668= | |
| XM_017010946.2:c.2079G>T | XP_016866435.1:p.Leu693= | |
| XM_017010947.2:c.2079G>T | XP_016866436.1:p.Leu693= | |
| XM_017010948.2:c.1368G>T | XP_016866437.1:p.Leu456= | |
| XM_017010949.2:c.219G>T | XP_016866438.1:p.Leu73= | |
| XM_017010950.1:c.2079G>T | XP_016866439.1:p.Leu693= | |
| XM_017010951.1:c.2079G>T | XP_016866440.1:p.Leu693= | |
| XM_017010952.1:c.2079G>T | XP_016866441.1:p.Leu693= | |
| XR_001743469.1:n.2355G>T | ||
| NM_138694.4:c.2079G>T MANE Select | NP_619639.3:p.Leu693= | |
| NM_170724.3:c.2079G>T | NP_733842.2:p.Leu693= |