Linked Data
dbSNP Id:
rs1047278336
gnomAD v2:
4-37938566-G-T
gnomAD v3:
4-37936945-G-T
gnomAD v4:
4-37936945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.37936945G>T , CM000666.2:g.37936945G>T | GRCh38 |
| NC_000004.11:g.37938566G>T , CM000666.1:g.37938566G>T | GRCh37 |
| NC_000004.10:g.37614961G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698857.1:c.417+34433G>T MANE Select | ENSP00000513987.1:n.417+34433G>T | |
| ENST00000698858.1:n.466+26585G>T | ||
| ENST00000261439.9:c.417+34433G>T | ENSP00000261439.4:n.417+34433G>T | |
| ENST00000261439.8:c.417+34433G>T | ENSP00000261439.4:n.417+34433G>T | |
| ENST00000402522.1:c.418-15061G>T | ENSP00000383994.1:n.418-15061G>T | |
| ENST00000508802.5:c.417+34433G>T | ENSP00000423651.1:n.417+34433G>T | |
| ENST00000615497.4:c.-267+34538G>T | ENSP00000478039.1:n.-267+34538G>T | |
| NM_001253912.1:c.417+34433G>T | NP_001240841.1:n.417+34433G>T | |
| NM_015173.3:c.417+34433G>T | NP_055988.2:n.417+34433G>T | |
| XM_005262646.1:c.417+34433G>T | XP_005262703.1:n.417+34433G>T | |
| XM_005262647.1:c.417+34433G>T | XP_005262704.1:n.417+34433G>T | |
| XM_011513659.1:c.417+34433G>T | XP_011511961.1:n.417+34433G>T | |
| XM_011513660.1:c.417+34433G>T | XP_011511962.1:n.417+34433G>T | |
| XM_011513661.1:c.417+34433G>T | XP_011511963.1:n.417+34433G>T | |
| XM_011513662.1:c.417+34433G>T | XP_011511964.1:n.417+34433G>T | |
| XM_011513663.1:c.417+34433G>T | XP_011511965.1:n.417+34433G>T | |
| XM_011513664.1:c.417+34433G>T | XP_011511966.1:n.417+34433G>T | |
| XM_011513665.1:c.417+34433G>T | XP_011511967.1:n.417+34433G>T | |
| XM_011513666.1:c.417+34433G>T | XP_011511968.1:n.417+34433G>T | |
| XM_011513667.1:c.417+34433G>T | XP_011511969.1:n.417+34433G>T | |
| XM_011513668.1:c.417+34433G>T | XP_011511970.1:n.417+34433G>T | |
| XR_925212.1:n.778+6963G>T | ||
| XM_005262646.3:c.417+34433G>T | XP_005262703.1:n.417+34433G>T | |
| XM_005262647.3:c.417+34433G>T | XP_005262704.1:n.417+34433G>T | |
| XM_011513659.2:c.417+34433G>T | XP_011511961.1:n.417+34433G>T | |
| XM_011513660.3:c.417+34433G>T | XP_011511962.1:n.417+34433G>T | |
| XM_011513662.3:c.417+34433G>T | XP_011511964.1:n.417+34433G>T | |
| XM_011513663.3:c.417+34433G>T | XP_011511965.1:n.417+34433G>T | |
| XM_011513664.3:c.417+34433G>T | XP_011511966.1:n.417+34433G>T | |
| XM_011513665.3:c.417+34433G>T | XP_011511967.1:n.417+34433G>T | |
| XM_011513666.3:c.417+34433G>T | XP_011511968.1:n.417+34433G>T | |
| XM_011513668.2:c.417+34433G>T | XP_011511970.1:n.417+34433G>T | |
| XM_017007918.2:c.417+34433G>T | XP_016863407.1:n.417+34433G>T | |
| XM_017007919.2:c.417+34433G>T | XP_016863408.1:n.417+34433G>T | |
| XM_017007920.2:c.417+34433G>T | XP_016863409.1:n.417+34433G>T | |
| XM_017007922.1:c.417+34433G>T | XP_016863411.1:n.417+34433G>T | |
| XR_001741181.1:n.775+34433G>T | ||
| XR_925212.3:n.6085+6963G>T | ||
| NM_015173.4:c.417+34433G>T | NP_055988.2:n.417+34433G>T | |
| NM_001253912.2:c.417+34433G>T | NP_001240841.1:n.417+34433G>T | |
| NM_001396959.1:c.417+34433G>T MANE Select | NP_001383888.1:n.417+34433G>T |